Canonical Allele Identifier: CA369359271
Gene: AKR1D1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138091810C>G , CM000669.2:g.138091810C>G GRCh38
NC_000007.13:g.137776556C>G , CM000669.1:g.137776556C>G GRCh37
NC_000007.12:g.137427096C>G NCBI36
NG_023342.1:g.20379C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242375.8:c.304C>G MANE Select ENSP00000242375.3:p.Leu102Val
ENST00000242375.7:c.304C>G ENSP00000242375.3:p.Leu102Val
ENST00000411726.6:c.304C>G ENSP00000402374.2:p.Leu102Val
ENST00000432161.5:c.304C>G ENSP00000389197.1:p.Leu102Val
ENST00000438242.1:c.136C>G ENSP00000397042.1:p.Leu46Val
ENST00000468877.2:n.222-8C>G
NM_001190906.1:c.304C>G NP_001177835.1:p.Leu102Val
NM_001190907.1:c.304C>G NP_001177836.1:p.Leu102Val
NM_005989.3:c.304C>G NP_005980.1:p.Leu102Val
NM_005989.4:c.304C>G MANE Select NP_005980.1:p.Leu102Val
NM_001190906.2:c.304C>G NP_001177835.1:p.Leu102Val
NM_001190907.2:c.304C>G NP_001177836.1:p.Leu102Val