Canonical Allele Identifier: CA4502823

Gene: AKR1D1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138107498T>C , CM000669.2:g.138107498T>C	GRCh38
NC_000007.13:g.137792244T>C , CM000669.1:g.137792244T>C	GRCh37
NC_000007.12:g.137442784T>C	NCBI36
NG_023342.1:g.36067T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005989.4:c.773T>C MANE Select	NP_005980.1:p.Ile258Thr
ENST00000242375.8:c.773T>C MANE Select	ENSP00000242375.3:p.Ile258Thr
NM_001190906.1:c.650T>C	NP_001177835.1:p.Ile217Thr
NM_001190906.2:c.650T>C	NP_001177835.1:p.Ile217Thr
NM_001190907.1:c.773T>C	NP_001177836.1:p.Ile258Thr
NM_001190907.2:c.773T>C	NP_001177836.1:p.Ile258Thr
NM_005989.3:c.773T>C	NP_005980.1:p.Ile258Thr
ENST00000242375.7:c.773T>C	ENSP00000242375.3:p.Ile258Thr
ENST00000411726.6:c.650T>C	ENSP00000402374.2:p.Ile217Thr
ENST00000432161.5:c.773T>C	ENSP00000389197.1:p.Ile258Thr
ENST00000468877.2:n.796T>C