Canonical Allele Identifier: CA362969391

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs2127382399
• gnomAD v4: 6-24503264-G-T
• MyVariant Identifiers: chr6:g.24503492G>T (hg19) ; chr6:g.24503264G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503264G>T , CM000668.2:g.24503264G>T	GRCh38
NC_000006.11:g.24503492G>T , CM000668.1:g.24503492G>T	GRCh37
NC_000006.10:g.24611471G>T	NCBI36
NG_008161.1:g.13296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.440G>T MANE Select	ENSP00000350191.3:p.Gly147Val
ENST00000672352.1:c.203G>T	ENSP00000500876.1:p.Gly68Val
ENST00000672557.1:c.358G>T
ENST00000672652.1:c.361G>T
ENST00000675422.1:n.1200G>T
ENST00000348925.2:c.440G>T	ENSP00000314649.3:p.Gly147Val
ENST00000357578.7:c.440G>T	ENSP00000350191.3:p.Gly147Val
ENST00000491546.5:c.356G>T	ENSP00000417687.1:p.Gly119Val
NM_001080.3:c.440G>T MANE Select	NP_001071.1:p.Gly147Val
NM_170740.1:c.440G>T	NP_733936.1:p.Gly147Val
NM_001368954.1:c.440G>T	NP_001355883.1:p.Gly147Val