Canonical Allele Identifier: CA1616534948
Community Standard Title: NM_001080.3(ALDH5A1):c.1234C= (p.Arg412=)
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528057C= , CM000668.2:g.24528057C= GRCh38
NC_000006.11:g.24528285C= , CM000668.1:g.24528285C= GRCh37
NC_000006.10:g.24636264C= NCBI36
NG_008161.1:g.38089C=

Transcript Alleles

HGVS Amino-acid Change
NM_001080.3:c.1234C= MANE Select NP_001071.1:p.Arg412=
ENST00000357578.8:c.1234C= MANE Select ENSP00000350191.3:p.Arg412=
NM_001368954.1:c.1090C= NP_001355883.1:p.Arg364=
NM_170740.1:c.1273C= NP_733936.1:p.Arg425=
ENST00000348925.2:c.1273C= ENSP00000314649.3:p.Arg425=
ENST00000357578.7:c.1234C= ENSP00000350191.3:p.Arg412=
ENST00000479394.1:n.349C=
ENST00000479394.2:n.349C=
ENST00000491546.5:c.1150C= ENSP00000417687.1:p.Arg384=
ENST00000672352.1:c.853C= ENSP00000500876.1:p.Arg285=
ENST00000672652.1:c.1197C=