Canonical Allele Identifier: CA362969594

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 1878450
• ClinVar RCV Id: RCV002510503
• gnomAD v4: 6-24503360-T-A
• MyVariant Identifiers: chr6:g.24503588T>A (hg19) ; chr6:g.24503360T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503360T>A , CM000668.2:g.24503360T>A	GRCh38
NC_000006.11:g.24503588T>A , CM000668.1:g.24503588T>A	GRCh37
NC_000006.10:g.24611567T>A	NCBI36
NG_008161.1:g.13392T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.536T>A MANE Select	ENSP00000350191.3:p.Ile179Asn
ENST00000672352.1:c.299T>A	ENSP00000500876.1:p.Ile100Asn
ENST00000672557.1:c.454T>A
ENST00000672652.1:c.457T>A
ENST00000675422.1:n.1296T>A
ENST00000348925.2:c.536T>A	ENSP00000314649.3:p.Ile179Asn
ENST00000357578.7:c.536T>A	ENSP00000350191.3:p.Ile179Asn
ENST00000491546.5:c.452T>A	ENSP00000417687.1:p.Ile151Asn
NM_001080.3:c.536T>A MANE Select	NP_001071.1:p.Ile179Asn
NM_170740.1:c.536T>A	NP_733936.1:p.Ile179Asn
NM_001368954.1:c.536T>A	NP_001355883.1:p.Ile179Asn