Canonical Allele Identifier: CA369359256

Gene: AKR1D1

Linked Data

• MyVariant Identifiers: chr7:g.137776548G>C (hg19) ; chr7:g.138091802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091802G>C , CM000669.2:g.138091802G>C	GRCh38
NC_000007.13:g.137776548G>C , CM000669.1:g.137776548G>C	GRCh37
NC_000007.12:g.137427088G>C	NCBI36
NG_023342.1:g.20371G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.296G>C MANE Select	ENSP00000242375.3:p.Arg99Pro
ENST00000242375.7:c.296G>C	ENSP00000242375.3:p.Arg99Pro
ENST00000411726.6:c.296G>C	ENSP00000402374.2:p.Arg99Pro
ENST00000432161.5:c.296G>C	ENSP00000389197.1:p.Arg99Pro
ENST00000438242.1:c.128G>C	ENSP00000397042.1:p.Arg43Pro
ENST00000468877.2:n.222-16G>C
NM_001190906.1:c.296G>C	NP_001177835.1:p.Arg99Pro
NM_001190907.1:c.296G>C	NP_001177836.1:p.Arg99Pro
NM_005989.3:c.296G>C	NP_005980.1:p.Arg99Pro
NM_005989.4:c.296G>C MANE Select	NP_005980.1:p.Arg99Pro
NM_001190906.2:c.296G>C	NP_001177835.1:p.Arg99Pro
NM_001190907.2:c.296G>C	NP_001177836.1:p.Arg99Pro