Canonical Allele Identifier: CA362969667

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 1878453
• ClinVar RCV Id: RCV002510506
• gnomAD v4: 6-24503398-A-T
• MyVariant Identifiers: chr6:g.24503626A>T (hg19) ; chr6:g.24503398A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503398A>T , CM000668.2:g.24503398A>T	GRCh38
NC_000006.11:g.24503626A>T , CM000668.1:g.24503626A>T	GRCh37
NC_000006.10:g.24611605A>T	NCBI36
NG_008161.1:g.13430A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.574A>T MANE Select	ENSP00000350191.3:p.Lys192Ter
ENST00000672352.1:c.337A>T	ENSP00000500876.1:p.Lys113Ter
ENST00000672557.1:c.492A>T
ENST00000672652.1:c.495A>T
ENST00000675422.1:n.1334A>T
ENST00000348925.2:c.574A>T	ENSP00000314649.3:p.Lys192Ter
ENST00000357578.7:c.574A>T	ENSP00000350191.3:p.Lys192Ter
ENST00000491546.5:c.490A>T	ENSP00000417687.1:p.Lys164Ter
NM_001080.3:c.574A>T MANE Select	NP_001071.1:p.Lys192Ter
NM_170740.1:c.574A>T	NP_733936.1:p.Lys192Ter
NM_001368954.1:c.574A>T	NP_001355883.1:p.Lys192Ter