Canonical Allele Identifier: CA362969612

Gene: ALDH5A1

Linked Data

• gnomAD v4: 6-24503371-G-A
• MyVariant Identifiers: chr6:g.24503599G>A (hg19) ; chr6:g.24503371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503371G>A , CM000668.2:g.24503371G>A	GRCh38
NC_000006.11:g.24503599G>A , CM000668.1:g.24503599G>A	GRCh37
NC_000006.10:g.24611578G>A	NCBI36
NG_008161.1:g.13403G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.547G>A MANE Select	ENSP00000350191.3:p.Ala183Thr
ENST00000672352.1:c.310G>A	ENSP00000500876.1:p.Ala104Thr
ENST00000672557.1:c.465G>A
ENST00000672652.1:c.468G>A
ENST00000675422.1:n.1307G>A
ENST00000348925.2:c.547G>A	ENSP00000314649.3:p.Ala183Thr
ENST00000357578.7:c.547G>A	ENSP00000350191.3:p.Ala183Thr
ENST00000491546.5:c.463G>A	ENSP00000417687.1:p.Ala155Thr
NM_001080.3:c.547G>A MANE Select	NP_001071.1:p.Ala183Thr
NM_170740.1:c.547G>A	NP_733936.1:p.Ala183Thr
NM_001368954.1:c.547G>A	NP_001355883.1:p.Ala183Thr