Canonical Allele Identifier: CA167079538

Gene: AKR1D1

Linked Data

• dbSNP Id: rs867480105
• gnomAD v2: 7-137776547-C-T
• gnomAD v3: 7-138091801-C-T
• gnomAD v4: 7-138091801-C-T
• COSMIC: COSM1488266
• MyVariant Identifiers: chr7:g.137776547C>T (hg19) ; chr7:g.138091801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091801C>T , CM000669.2:g.138091801C>T	GRCh38
NC_000007.13:g.137776547C>T , CM000669.1:g.137776547C>T	GRCh37
NC_000007.12:g.137427087C>T	NCBI36
NG_023342.1:g.20370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.295C>T MANE Select	ENSP00000242375.3:p.Arg99Cys
ENST00000242375.7:c.295C>T	ENSP00000242375.3:p.Arg99Cys
ENST00000411726.6:c.295C>T	ENSP00000402374.2:p.Arg99Cys
ENST00000432161.5:c.295C>T	ENSP00000389197.1:p.Arg99Cys
ENST00000438242.1:c.127C>T	ENSP00000397042.1:p.Arg43Cys
ENST00000468877.2:n.222-17C>T
NM_001190906.1:c.295C>T	NP_001177835.1:p.Arg99Cys
NM_001190907.1:c.295C>T	NP_001177836.1:p.Arg99Cys
NM_005989.3:c.295C>T	NP_005980.1:p.Arg99Cys
NM_005989.4:c.295C>T MANE Select	NP_005980.1:p.Arg99Cys
NM_001190906.2:c.295C>T	NP_001177835.1:p.Arg99Cys
NM_001190907.2:c.295C>T	NP_001177836.1:p.Arg99Cys