hydroxymethylbilane synthase [Source:HGNC Symbol;Acc:4982]
PBG-D, PBGD, PORC, UPS
Chromosome 11: 118,955,576-118,964,259 forward strand.
GRCh37:CM000673.1
View alleles of this gene on alternative sequences
This gene has 25 transcripts (splice variants), 1 gene allele and is associated with 2 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000278715.3 | HMBS-001 | 1501 | 361aa | ENSP00000278715.3 | Protein coding | CCDS8409 | B5U9V4 F5GY90 P08397 Q0G847 Q68Y91 | NM_000190.3 | Ensembl Canonical, GENCODE basic, |
ENST00000537841.1 | HMBS-007 | 1559 | 344aa | ENSP00000444730.1 | Protein coding | CCDS41726 | B5U9V4 F5GY90 P08397 Q0G847 Q68Y91 | - | GENCODE basic, |
ENST00000442944.2 | HMBS-025 | 1548 | 344aa | ENSP00000392041.2 | Protein coding | CCDS41726 | B5U9V4 F5GY90 P08397 Q0G847 Q68Y91 | - | GENCODE basic, |
ENST00000542729.1 | HMBS-002 | 1469 | 304aa | ENSP00000443058.1 | Protein coding | CCDS58187 | B5U9V4 F5GY90 P08397 | NM_001258209.1 | GENCODE basic, |
ENST00000392841.1 | HMBS-201 | 1411 | 344aa | ENSP00000376584.1 | Protein coding | CCDS41726 | B5U9V4 F5GY90 P08397 Q0G847 Q68Y91 | NM_001024382.1 | GENCODE basic, |
ENST00000544387.1 | HMBS-003 | 1351 | 321aa | ENSP00000438424.1 | Protein coding | CCDS58186 | B5U9V4 F5GY90 P08397 | NM_001258208.1 | GENCODE basic, |
ENST00000543090.1 | HMBS-004 | 1347 | 330aa | ENSP00000445429.1 | Protein coding | B5U9V4 F5H345 Q0G847 | - | GENCODE basic, | |
ENST00000539986.1 | HMBS-008 | 1155 | 187aa | ENSP00000440092.1 | Protein coding | F5GY90 | - | CDS 3' incomplete, | |
ENST00000535253.1 | HMBS-010 | 755 | 187aa | ENSP00000442079.1 | Protein coding | F5GY90 | - | CDS 3' incomplete, | |
ENST00000546302.1 | HMBS-015 | 708 | 191aa | ENSP00000445599.1 | Protein coding | F5H226 | - | CDS 3' incomplete, | |
ENST00000536813.1 | HMBS-014 | 507 | 119aa | ENSP00000438726.1 | Protein coding | F5H0P4 | - | CDS 3' incomplete, | |
ENST00000545621.1 | HMBS-005 | 1282 | 81aa | ENSP00000444849.1 | Nonsense mediated decay | F5H4X2 | - | - | |
ENST00000542822.1 | HMBS-012 | 936 | 81aa | ENSP00000444817.1 | Nonsense mediated decay | F5H4Y7 | - | - | |
ENST00000535793.1 | HMBS-016 | 832 | 63aa | ENSP00000439904.1 | Nonsense mediated decay | F5H4W5 | - | - | |
ENST00000534956.1 | HMBS-018 | 547 | No protein | - | Processed transcript | - | - | - | |
ENST00000536185.1 | HMBS-021 | 441 | No protein | - | Processed transcript | - | - | - | |
ENST00000546226.1 | HMBS-020 | 2112 | No protein | - | Retained intron | - | - | - | |
ENST00000543543.1 | HMBS-009 | 1796 | No protein | - | Retained intron | - | - | - | |
ENST00000542044.1 | HMBS-006 | 1544 | No protein | - | Retained intron | - | - | - | |
ENST00000544182.1 | HMBS-019 | 1542 | No protein | - | Retained intron | - | - | - | |
ENST00000542345.1 | HMBS-011 | 882 | No protein | - | Retained intron | - | - | - | |
ENST00000539045.1 | HMBS-017 | 845 | No protein | - | Retained intron | - | - | - | |
ENST00000544360.1 | HMBS-024 | 695 | No protein | - | Retained intron | - | - | - | |
ENST00000545901.1 | HMBS-013 | 581 | No protein | - | Retained intron | - | - | - | |
ENST00000543821.1 | HMBS-023 | 562 | No protein | - | Retained intron | - | - | - |