Canonical Allele Identifier: CA2579033688
Gene: AKR1D1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138091757G>C , CM000669.2:g.138091757G>C GRCh38
NC_000007.13:g.137776503G>C , CM000669.1:g.137776503G>C GRCh37
NC_000007.12:g.137427043G>C NCBI36
NG_023342.1:g.20326G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242375.8:c.262-11G>C MANE Select ENSP00000242375.3:n.262-11G>C
ENST00000242375.7:c.262-11G>C ENSP00000242375.3:n.262-11G>C
ENST00000411726.6:c.262-11G>C ENSP00000402374.2:n.262-11G>C
ENST00000432161.5:c.262-11G>C ENSP00000389197.1:n.262-11G>C
ENST00000438242.1:c.94-11G>C ENSP00000397042.1:n.94-11G>C
ENST00000468877.2:n.222-61G>C
NM_001190906.1:c.262-11G>C NP_001177835.1:n.262-11G>C
NM_001190907.1:c.262-11G>C NP_001177836.1:n.262-11G>C
NM_005989.3:c.262-11G>C NP_005980.1:n.262-11G>C
NM_005989.4:c.262-11G>C MANE Select NP_005980.1:n.262-11G>C
NM_001190906.2:c.262-11G>C NP_001177835.1:n.262-11G>C
NM_001190907.2:c.262-11G>C NP_001177836.1:n.262-11G>C