Canonical Allele Identifier: CA1616510488
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503393T= , CM000668.2:g.24503393T= GRCh38
NC_000006.11:g.24503621T= , CM000668.1:g.24503621T= GRCh37
NC_000006.10:g.24611600T= NCBI36
NG_008161.1:g.13425T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.569T= MANE Select ENSP00000350191.3:p.Val190=
ENST00000672352.1:c.332T= ENSP00000500876.1:p.Val111=
ENST00000672557.1:c.487T=
ENST00000672652.1:c.490T=
ENST00000675422.1:n.1329T=
ENST00000348925.2:c.569T= ENSP00000314649.3:p.Val190=
ENST00000357578.7:c.569T= ENSP00000350191.3:p.Val190=
ENST00000491546.5:c.485T= ENSP00000417687.1:p.Val162=
NM_001080.3:c.569T= MANE Select NP_001071.1:p.Val190=
NM_170740.1:c.569T= NP_733936.1:p.Val190=
NM_001368954.1:c.569T= NP_001355883.1:p.Val190=