Canonical Allele Identifier: CA4502651
Gene: AKR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs376123232

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138091819A>G , CM000669.2:g.138091819A>G GRCh38
NC_000007.13:g.137776565A>G , CM000669.1:g.137776565A>G GRCh37
NC_000007.12:g.137427105A>G NCBI36
NG_023342.1:g.20388A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242375.8:c.313A>G MANE Select ENSP00000242375.3:p.Thr105Ala
ENST00000242375.7:c.313A>G ENSP00000242375.3:p.Thr105Ala
ENST00000411726.6:c.313A>G ENSP00000402374.2:p.Thr105Ala
ENST00000432161.5:c.313A>G ENSP00000389197.1:p.Thr105Ala
ENST00000438242.1:c.145A>G ENSP00000397042.1:p.Thr49Ala
ENST00000468877.2:n.223A>G
NM_001190906.1:c.313A>G NP_001177835.1:p.Thr105Ala
NM_001190907.1:c.313A>G NP_001177836.1:p.Thr105Ala
NM_005989.3:c.313A>G NP_005980.1:p.Thr105Ala
NM_005989.4:c.313A>G MANE Select NP_005980.1:p.Thr105Ala
NM_001190906.2:c.313A>G NP_001177835.1:p.Thr105Ala
NM_001190907.2:c.313A>G NP_001177836.1:p.Thr105Ala