Canonical Allele Identifier: CA369359387

Gene: AKR1D1

Linked Data

• MyVariant Identifiers: chr7:g.137776611A>T (hg19) ; chr7:g.138091865A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091865A>T , CM000669.2:g.138091865A>T	GRCh38
NC_000007.13:g.137776611A>T , CM000669.1:g.137776611A>T	GRCh37
NC_000007.12:g.137427151A>T	NCBI36
NG_023342.1:g.20434A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.359A>T MANE Select	ENSP00000242375.3:p.Glu120Val
ENST00000242375.7:c.359A>T	ENSP00000242375.3:p.Glu120Val
ENST00000411726.6:c.359A>T	ENSP00000402374.2:p.Glu120Val
ENST00000432161.5:c.359A>T	ENSP00000389197.1:p.Glu120Val
ENST00000438242.1:c.191A>T	ENSP00000397042.1:p.Glu64Val
ENST00000468877.2:n.269A>T
ENST00000470851.1:n.23A>T
NM_001190906.1:c.359A>T	NP_001177835.1:p.Glu120Val
NM_001190907.1:c.359A>T	NP_001177836.1:p.Glu120Val
NM_005989.3:c.359A>T	NP_005980.1:p.Glu120Val
NM_005989.4:c.359A>T MANE Select	NP_005980.1:p.Glu120Val
NM_001190906.2:c.359A>T	NP_001177835.1:p.Glu120Val
NM_001190907.2:c.359A>T	NP_001177836.1:p.Glu120Val