Canonical Allele Identifier: CA362978592

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24528325T>A (hg19) ; chr6:g.24528097T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528097T>A , CM000668.2:g.24528097T>A	GRCh38
NC_000006.11:g.24528325T>A , CM000668.1:g.24528325T>A	GRCh37
NC_000006.10:g.24636304T>A	NCBI36
NG_008161.1:g.38129T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1274T>A MANE Select	ENSP00000350191.3:p.Leu425Gln
ENST00000479394.2:n.389T>A
ENST00000672352.1:c.893T>A	ENSP00000500876.1:p.Leu298Gln
ENST00000672652.1:c.1237T>A
ENST00000348925.2:c.1313T>A	ENSP00000314649.3:p.Leu438Gln
ENST00000357578.7:c.1274T>A	ENSP00000350191.3:p.Leu425Gln
ENST00000479394.1:n.389T>A
ENST00000491546.5:c.1190T>A	ENSP00000417687.1:p.Leu397Gln
NM_001080.3:c.1274T>A MANE Select	NP_001071.1:p.Leu425Gln
NM_170740.1:c.1313T>A	NP_733936.1:p.Leu438Gln
NM_001368954.1:c.1130T>A	NP_001355883.1:p.Leu377Gln