Canonical Allele Identifier: CA1086958618
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1759232380
gnomAD v3: 6-24502919-G-T
gnomAD v4: 6-24502919-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24502919G>T , CM000668.2:g.24502919G>T GRCh38
NC_000006.11:g.24503147G>T , CM000668.1:g.24503147G>T GRCh37
NC_000006.10:g.24611126G>T NCBI36
NG_008161.1:g.12951G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.438+313G>T MANE Select ENSP00000350191.3:n.438+313G>T
ENST00000672352.1:c.201+313G>T ENSP00000500876.1:n.201+313G>T
ENST00000672557.1:c.356+156G>T
ENST00000672652.1:c.359+313G>T
ENST00000675422.1:n.1198+313G>T
ENST00000348925.2:c.438+313G>T ENSP00000314649.3:n.438+313G>T
ENST00000357578.7:c.438+313G>T ENSP00000350191.3:n.438+313G>T
ENST00000491546.5:c.355-344G>T ENSP00000417687.1:n.355-344G>T
NM_001080.3:c.438+313G>T MANE Select NP_001071.1:n.438+313G>T
NM_170740.1:c.438+313G>T NP_733936.1:n.438+313G>T
NM_001368954.1:c.438+313G>T NP_001355883.1:n.438+313G>T