Canonical Allele Identifier: CA1616510335
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503349_24503350delinsCG , CM000668.2:g.24503349_24503350delinsCG GRCh38
NC_000006.11:g.24503577_24503578delinsCG , CM000668.1:g.24503577_24503578delinsCG GRCh37
NC_000006.10:g.24611556_24611557delinsCG NCBI36
NG_008161.1:g.13381_13382delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.525_526delinsCG MANE Select ENSP00000350191.3:p.Tyr175=
ENST00000672352.1:c.288_289delinsCG ENSP00000500876.1:p.Tyr96=
ENST00000672557.1:c.443_444delinsCG
ENST00000672652.1:c.446_447delinsCG
ENST00000675422.1:n.1285_1286delinsCG
ENST00000348925.2:c.525_526delinsCG ENSP00000314649.3:p.Tyr175=
ENST00000357578.7:c.525_526delinsCG ENSP00000350191.3:p.Tyr175=
ENST00000491546.5:c.441_442delinsCG ENSP00000417687.1:p.Tyr147=
NM_001080.3:c.525_526delinsCG MANE Select NP_001071.1:p.Tyr175=
NM_170740.1:c.525_526delinsCG NP_733936.1:p.Tyr175=
NM_001368954.1:c.525_526delinsCG NP_001355883.1:p.Tyr175=