Canonical Allele Identifier: CA1746468654
Gene: AKR1D1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138091892C= , CM000669.2:g.138091892C= GRCh38
NC_000007.13:g.137776638C= , CM000669.1:g.137776638C= GRCh37
NC_000007.12:g.137427178C= NCBI36
NG_023342.1:g.20461C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000242375.8:c.378+8C= MANE Select ENSP00000242375.3:n.378+8C=
ENST00000242375.7:c.378+8C= ENSP00000242375.3:n.378+8C=
ENST00000411726.6:c.378+8C= ENSP00000402374.2:n.378+8C=
ENST00000432161.5:c.378+8C= ENSP00000389197.1:n.378+8C=
ENST00000438242.1:c.210+8C= ENSP00000397042.1:n.210+8C=
ENST00000468877.2:n.288+8C=
ENST00000470851.1:n.42+8C=
NM_001190906.1:c.378+8C= NP_001177835.1:n.378+8C=
NM_001190907.1:c.378+8C= NP_001177836.1:n.378+8C=
NM_005989.3:c.378+8C= NP_005980.1:n.378+8C=
NM_005989.4:c.378+8C= MANE Select NP_005980.1:n.378+8C=
NM_001190906.2:c.378+8C= NP_001177835.1:n.378+8C=
NM_001190907.2:c.378+8C= NP_001177836.1:n.378+8C=