Canonical Allele Identifier: CA369360443

Gene: AKR1D1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138097885C>A , CM000669.2:g.138097885C>A	GRCh38
NC_000007.13:g.137782631C>A , CM000669.1:g.137782631C>A	GRCh37
NC_000007.12:g.137433171C>A	NCBI36
NG_023342.1:g.26454C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.398C>A MANE Select	ENSP00000242375.3:p.Pro133His
ENST00000242375.7:c.398C>A	ENSP00000242375.3:p.Pro133His
ENST00000411726.6:c.398C>A	ENSP00000402374.2:p.Pro133His
ENST00000432161.5:c.398C>A	ENSP00000389197.1:p.Pro133His
ENST00000438242.1:c.230C>A	ENSP00000397042.1:p.Pro77His
ENST00000468877.2:n.308C>A
ENST00000470851.1:n.62C>A
NM_001190906.1:c.398C>A	NP_001177835.1:p.Pro133His
NM_001190907.1:c.398C>A	NP_001177836.1:p.Pro133His
NM_005989.3:c.398C>A	NP_005980.1:p.Pro133His
NM_005989.4:c.398C>A MANE Select	NP_005980.1:p.Pro133His
NM_001190906.2:c.398C>A	NP_001177835.1:p.Pro133His
NM_001190907.2:c.398C>A	NP_001177836.1:p.Pro133His