Canonical Allele Identifier: CA130783
Gene: ALDH1A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 40203
ClinVar RCV Id: RCV000033221
dbSNP Id: rs397514652
COSMIC: COSM959583

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100887632C>T , CM000677.2:g.100887632C>T GRCh38
NC_000015.9:g.101427837C>T , CM000677.1:g.101427837C>T GRCh37
NC_000015.8:g.99245360C>T NCBI36
NG_012254.1:g.12829C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329841.10:c.265C>T MANE Select ENSP00000332256.5:p.Arg89Cys
ENST00000329841.9:c.265C>T ENSP00000332256.5:p.Arg89Cys
ENST00000346623.6:c.265C>T ENSP00000343294.6:p.Arg89Cys
ENST00000558033.5:c.265C>T ENSP00000454107.1:p.Arg89Cys
ENST00000560555.1:n.325C>T
ENST00000561338.5:c.181C>T ENSP00000452789.1:p.Arg61Cys
NM_000693.3:c.265C>T NP_000684.2:p.Arg89Cys
NM_001293815.1:c.265C>T NP_001280744.1:p.Arg89Cys
NM_000693.4:c.265C>T MANE Select NP_000684.2:p.Arg89Cys
NM_001293815.2:c.265C>T NP_001280744.1:p.Arg89Cys