ataxia, cerebellar, Cayman type [Source:HGNC Symbol;Acc:779]
BNIP-H, CLAC, KIAA1872
Chromosome 19: 3,879,862-3,928,077 forward strand.
GRCh37:CM000681.1
This gene has 8 transcripts (splice variants), 6 paralogues and is associated with 2 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000450849.2 | ATCAY-001 | 5070 | 371aa | ENSP00000390941.1 | Protein coding | CCDS45923 | M0R197 Q86WG3 | NM_033064.4 | Ensembl Canonical, GENCODE basic, |
ENST00000600960.1 | ATCAY-004 | 2904 | 377aa | ENSP00000470842.1 | Protein coding | M0R197 Q86WG3 | - | GENCODE basic, | |
ENST00000398448.3 | ATCAY-202 | 1957 | 377aa | ENSP00000381466.3 | Protein coding | B4DS11 | - | GENCODE basic, | |
ENST00000301260.6 | ATCAY-201 | 1564 | 377aa | ENSP00000301260.6 | Protein coding | M0R197 Q86WG3 | - | GENCODE basic, | |
ENST00000598136.1 | ATCAY-005 | 530 | 99aa | ENSP00000471731.1 | Protein coding | M0R197 | - | CDS 3' incomplete, | |
ENST00000597739.1 | ATCAY-002 | 1957 | 74aa | ENSP00000472263.1 | Nonsense mediated decay | M0R225 | - | - | |
ENST00000595916.1 | ATCAY-006 | 548 | No protein | - | Processed transcript | - | - | - | |
ENST00000601323.1 | ATCAY-009 | 498 | No protein | - | Processed transcript | - | - | - |