Canonical Allele Identifier: CA4502667

Gene: AKR1D1

Linked Data

• dbSNP Id: rs772194005
• ExAC: 7:137776652 T / A
• MyVariant Identifiers: chr7:g.137776652T>A (hg19) ; chr7:g.138091906T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091906T>A , CM000669.2:g.138091906T>A	GRCh38
NC_000007.13:g.137776652T>A , CM000669.1:g.137776652T>A	GRCh37
NC_000007.12:g.137427192T>A	NCBI36
NG_023342.1:g.20475T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.378+22T>A MANE Select	ENSP00000242375.3:n.378+22T>A
ENST00000242375.7:c.378+22T>A	ENSP00000242375.3:n.378+22T>A
ENST00000411726.6:c.378+22T>A	ENSP00000402374.2:n.378+22T>A
ENST00000432161.5:c.378+22T>A	ENSP00000389197.1:n.378+22T>A
ENST00000438242.1:c.210+22T>A	ENSP00000397042.1:n.210+22T>A
ENST00000468877.2:n.288+22T>A
ENST00000470851.1:n.42+22T>A
NM_001190906.1:c.378+22T>A	NP_001177835.1:n.378+22T>A
NM_001190907.1:c.378+22T>A	NP_001177836.1:n.378+22T>A
NM_005989.3:c.378+22T>A	NP_005980.1:n.378+22T>A
NM_005989.4:c.378+22T>A MANE Select	NP_005980.1:n.378+22T>A
NM_001190906.2:c.378+22T>A	NP_001177835.1:n.378+22T>A
NM_001190907.2:c.378+22T>A	NP_001177836.1:n.378+22T>A