Canonical Allele Identifier: CA251759
Gene: ALDH5A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1358
ClinVar RCV Id: RCV000001423
dbSNP Id: rs118203983

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528057C>T , CM000668.2:g.24528057C>T GRCh38
NC_000006.11:g.24528285C>T , CM000668.1:g.24528285C>T GRCh37
NC_000006.10:g.24636264C>T NCBI36
NG_008161.1:g.38089C>T

Transcript Alleles

HGVS Amino-acid change
NM_001080.3:c.1234C>T VV NP_001071.1:p.Arg412Ter
NM_170740.1:c.1273C>T VV NP_733936.1:p.Arg425Ter
ENST00000348925.2:c.1273C>T ENSP00000314649.3:p.Arg425Ter
ENST00000357578.7:c.1234C>T ENSP00000350191.3:p.Arg412Ter
ENST00000479394.1:n.349C>T
ENST00000491546.5:c.1150C>T ENSP00000417687.1:p.Arg384Ter