Canonical Allele Identifier: CA369363902

Gene: AKR1D1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138113753C>T , CM000669.2:g.138113753C>T	GRCh38
NC_000007.13:g.137798499C>T , CM000669.1:g.137798499C>T	GRCh37
NC_000007.12:g.137449039C>T	NCBI36
NG_023342.1:g.42322C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005989.4:c.919C>T MANE Select	NP_005980.1:p.Arg307Cys
ENST00000242375.8:c.919C>T MANE Select	ENSP00000242375.3:p.Arg307Cys
NM_001190906.1:c.796C>T	NP_001177835.1:p.Arg266Cys
NM_001190906.2:c.796C>T	NP_001177835.1:p.Arg266Cys
NM_001190907.1:c.856-2867C>T	NP_001177836.1:n.856-2867C>T
NM_001190907.2:c.856-2867C>T	NP_001177836.1:n.856-2867C>T
NM_005989.3:c.919C>T	NP_005980.1:p.Arg307Cys
ENST00000242375.7:c.919C>T	ENSP00000242375.3:p.Arg307Cys
ENST00000411726.6:c.796C>T	ENSP00000402374.2:p.Arg266Cys
ENST00000432161.5:c.856-2867C>T	ENSP00000389197.1:n.856-2867C>T
ENST00000468877.2:n.942C>T