Canonical Allele Identifier: CA4502663

Gene: AKR1D1

Linked Data

• dbSNP Id: rs374004991
• ExAC: 7:137776630 G / A
• gnomAD v2: 7-137776630-G-A
• gnomAD v4: 7-138091884-G-A
• MyVariant Identifiers: chr7:g.137776630G>A (hg19) ; chr7:g.138091884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091884G>A , CM000669.2:g.138091884G>A	GRCh38
NC_000007.13:g.137776630G>A , CM000669.1:g.137776630G>A	GRCh37
NC_000007.12:g.137427170G>A	NCBI36
NG_023342.1:g.20453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.378G>A MANE Select	ENSP00000242375.3:p.Lys126=
ENST00000242375.7:c.378G>A	ENSP00000242375.3:p.Lys126=
ENST00000411726.6:c.378G>A	ENSP00000402374.2:p.Lys126=
ENST00000432161.5:c.378G>A	ENSP00000389197.1:p.Lys126=
ENST00000438242.1:c.210G>A	ENSP00000397042.1:p.Lys70=
ENST00000468877.2:n.288G>A
ENST00000470851.1:n.42G>A
NM_001190906.1:c.378G>A	NP_001177835.1:p.Lys126=
NM_001190907.1:c.378G>A	NP_001177836.1:p.Lys126=
NM_005989.3:c.378G>A	NP_005980.1:p.Lys126=
NM_005989.4:c.378G>A MANE Select	NP_005980.1:p.Lys126=
NM_001190906.2:c.378G>A	NP_001177835.1:p.Lys126=
NM_001190907.2:c.378G>A	NP_001177836.1:p.Lys126=