Canonical Allele Identifier: CA362969644

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 1055945
• ClinVar RCV Id: RCV001364700
• dbSNP Id: rs1287321413
• MyVariant Identifiers: chr6:g.24503614G>A (hg19) ; chr6:g.24503386G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503386G>A , CM000668.2:g.24503386G>A	GRCh38
NC_000006.11:g.24503614G>A , CM000668.1:g.24503614G>A	GRCh37
NC_000006.10:g.24611593G>A	NCBI36
NG_008161.1:g.13418G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.562G>A MANE Select	ENSP00000350191.3:p.Ala188Thr
ENST00000672352.1:c.325G>A	ENSP00000500876.1:p.Ala109Thr
ENST00000672557.1:c.480G>A
ENST00000672652.1:c.483G>A
ENST00000675422.1:n.1322G>A
ENST00000348925.2:c.562G>A	ENSP00000314649.3:p.Ala188Thr
ENST00000357578.7:c.562G>A	ENSP00000350191.3:p.Ala188Thr
ENST00000491546.5:c.478G>A	ENSP00000417687.1:p.Ala160Thr
NM_001080.3:c.562G>A MANE Select	NP_001071.1:p.Ala188Thr
NM_170740.1:c.562G>A	NP_733936.1:p.Ala188Thr
NM_001368954.1:c.562G>A	NP_001355883.1:p.Ala188Thr