emerin [Source:HGNC Symbol;Acc:3331]
EDMD, LEMD5, STA
Chromosome X: 153,607,557-153,609,883 forward strand.
GRCh37:CM000685.1
View alleles of this gene on alternative sequences
This gene has 9 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000369842.4 | EMD-001 | 1379 | 254aa | ENSP00000358857.4 | Protein coding | CCDS14745 | P50402 | NM_000117.2 | Ensembl Canonical, GENCODE basic, |
ENST00000369835.3 | EMD-010 | 966 | 219aa | ENSP00000358850.3 | Protein coding | Q5HY57 | - | GENCODE basic, | |
ENST00000428228.1 | EMD-007 | 946 | 21aa | ENSP00000401081.1 | Nonsense mediated decay | F8WEQ1 | - | - | |
ENST00000492448.1 | EMD-009 | 832 | No protein | - | Processed transcript | - | - | - | |
ENST00000486738.1 | EMD-003 | 1284 | No protein | - | Retained intron | - | - | - | |
ENST00000471965.1 | EMD-004 | 800 | No protein | - | Retained intron | - | - | - | |
ENST00000485261.1 | EMD-006 | 792 | No protein | - | Retained intron | - | - | - | |
ENST00000494443.1 | EMD-005 | 765 | No protein | - | Retained intron | - | - | - | |
ENST00000468294.1 | EMD-008 | 501 | No protein | - | Retained intron | - | - | - |