Canonical Allele Identifier: CA136139140

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 1231431
• ClinVar RCV Id: RCV001610087
• dbSNP Id: rs77807345
• gnomAD v2: 6-24528093-C-T
• gnomAD v3: 6-24527865-C-T
• gnomAD v4: 6-24527865-C-T
• MyVariant Identifiers: chr6:g.24528093C>T (hg19) ; chr6:g.24527865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24527865C>T , CM000668.2:g.24527865C>T	GRCh38
NC_000006.11:g.24528093C>T , CM000668.1:g.24528093C>T	GRCh37
NC_000006.10:g.24636072C>T	NCBI36
NG_008161.1:g.37897C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1174-132C>T MANE Select	ENSP00000350191.3:n.1174-132C>T
ENST00000479394.2:n.289-132C>T
ENST00000672352.1:c.793-132C>T	ENSP00000500876.1:n.793-132C>T
ENST00000672652.1:c.1137-132C>T
ENST00000348925.2:c.1213-132C>T	ENSP00000314649.3:n.1213-132C>T
ENST00000357578.7:c.1174-132C>T	ENSP00000350191.3:n.1174-132C>T
ENST00000479394.1:n.289-132C>T
ENST00000491546.5:c.1090-132C>T	ENSP00000417687.1:n.1090-132C>T
NM_001080.3:c.1174-132C>T MANE Select	NP_001071.1:n.1174-132C>T
NM_170740.1:c.1213-132C>T	NP_733936.1:n.1213-132C>T
NM_001368954.1:c.1030-132C>T	NP_001355883.1:n.1030-132C>T