Canonical Allele Identifier: CA448782513
Gene: ALDH5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.24503493A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503265A>C , CM000668.2:g.24503265A>C GRCh38
NC_000006.11:g.24503493A>C , CM000668.1:g.24503493A>C GRCh37
NC_000006.10:g.24611472A>C NCBI36
NG_008161.1:g.13297A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.441A>C MANE Select ENSP00000350191.3:p.Gly147=
ENST00000672352.1:c.204A>C ENSP00000500876.1:p.Gly68=
ENST00000672557.1:c.359A>C
ENST00000672652.1:c.362A>C
ENST00000675422.1:n.1201A>C
ENST00000348925.2:c.441A>C ENSP00000314649.3:p.Gly147=
ENST00000357578.7:c.441A>C ENSP00000350191.3:p.Gly147=
ENST00000491546.5:c.357A>C ENSP00000417687.1:p.Gly119=
NM_001080.3:c.441A>C MANE Select NP_001071.1:p.Gly147=
NM_170740.1:c.441A>C NP_733936.1:p.Gly147=
NM_001368954.1:c.441A>C NP_001355883.1:p.Gly147=