Canonical Allele Identifier: CA448787604
Gene: ALDH5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.24528320C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528092C>G , CM000668.2:g.24528092C>G GRCh38
NC_000006.11:g.24528320C>G , CM000668.1:g.24528320C>G GRCh37
NC_000006.10:g.24636299C>G NCBI36
NG_008161.1:g.38124C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1269C>G MANE Select ENSP00000350191.3:p.Thr423=
ENST00000479394.2:n.384C>G
ENST00000672352.1:c.888C>G ENSP00000500876.1:p.Thr296=
ENST00000672652.1:c.1232C>G
ENST00000348925.2:c.1308C>G ENSP00000314649.3:p.Thr436=
ENST00000357578.7:c.1269C>G ENSP00000350191.3:p.Thr423=
ENST00000479394.1:n.384C>G
ENST00000491546.5:c.1185C>G ENSP00000417687.1:p.Thr395=
NM_001080.3:c.1269C>G MANE Select NP_001071.1:p.Thr423=
NM_170740.1:c.1308C>G NP_733936.1:p.Thr436=
NM_001368954.1:c.1125C>G NP_001355883.1:p.Thr375=