Canonical Allele Identifier: CA448782622

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24503649A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503421A>C , CM000668.2:g.24503421A>C	GRCh38
NC_000006.11:g.24503649A>C , CM000668.1:g.24503649A>C	GRCh37
NC_000006.10:g.24611628A>C	NCBI36
NG_008161.1:g.13453A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.597A>C MANE Select	ENSP00000350191.3:p.Ala199=
ENST00000672352.1:c.360A>C	ENSP00000500876.1:p.Ala120=
ENST00000672557.1:c.515A>C
ENST00000672652.1:c.518A>C
ENST00000675422.1:n.1357A>C
ENST00000348925.2:c.597A>C	ENSP00000314649.3:p.Ala199=
ENST00000357578.7:c.597A>C	ENSP00000350191.3:p.Ala199=
ENST00000491546.5:c.513A>C	ENSP00000417687.1:p.Ala171=
NM_001080.3:c.597A>C MANE Select	NP_001071.1:p.Ala199=
NM_170740.1:c.597A>C	NP_733936.1:p.Ala199=
NM_001368954.1:c.597A>C	NP_001355883.1:p.Ala199=