Canonical Allele Identifier: CA448787528

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24528287A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528059A>C , CM000668.2:g.24528059A>C	GRCh38
NC_000006.11:g.24528287A>C , CM000668.1:g.24528287A>C	GRCh37
NC_000006.10:g.24636266A>C	NCBI36
NG_008161.1:g.38091A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000357578.8:c.1236A>C MANE Select	ENSP00000350191.3:p.Arg412=
ENST00000479394.2:n.351A>C
ENST00000672352.1:c.855A>C	ENSP00000500876.1:p.Arg285=
ENST00000672652.1:c.1199A>C
ENST00000348925.2:c.1275A>C	ENSP00000314649.3:p.Arg425=
ENST00000357578.7:c.1236A>C	ENSP00000350191.3:p.Arg412=
ENST00000479394.1:n.351A>C
ENST00000491546.5:c.1152A>C	ENSP00000417687.1:p.Arg384=
NM_001080.3:c.1236A>C MANE Select	NP_001071.1:p.Arg412=
NM_170740.1:c.1275A>C	NP_733936.1:p.Arg425=
NM_001368954.1:c.1092A>C	NP_001355883.1:p.Arg364=