Canonical Allele Identifier: CA362969689

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24503636T>G (hg19) ; chr6:g.24503408T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503408T>G , CM000668.2:g.24503408T>G	GRCh38
NC_000006.11:g.24503636T>G , CM000668.1:g.24503636T>G	GRCh37
NC_000006.10:g.24611615T>G	NCBI36
NG_008161.1:g.13440T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.584T>G MANE Select	ENSP00000350191.3:p.Ile195Arg
ENST00000672352.1:c.347T>G	ENSP00000500876.1:p.Ile116Arg
ENST00000672557.1:c.502T>G
ENST00000672652.1:c.505T>G
ENST00000675422.1:n.1344T>G
ENST00000348925.2:c.584T>G	ENSP00000314649.3:p.Ile195Arg
ENST00000357578.7:c.584T>G	ENSP00000350191.3:p.Ile195Arg
ENST00000491546.5:c.500T>G	ENSP00000417687.1:p.Ile167Arg
NM_001080.3:c.584T>G MANE Select	NP_001071.1:p.Ile195Arg
NM_170740.1:c.584T>G	NP_733936.1:p.Ile195Arg
NM_001368954.1:c.584T>G	NP_001355883.1:p.Ile195Arg