Canonical Allele Identifier: CA4502658

Gene: AKR1D1

Linked Data

• dbSNP Id: rs756861735
• ExAC: 7:137776590 A / T
• gnomAD v2: 7-137776590-A-T
• gnomAD v4: 7-138091844-A-T
• MyVariant Identifiers: chr7:g.137776590A>T (hg19) ; chr7:g.138091844A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091844A>T , CM000669.2:g.138091844A>T	GRCh38
NC_000007.13:g.137776590A>T , CM000669.1:g.137776590A>T	GRCh37
NC_000007.12:g.137427130A>T	NCBI36
NG_023342.1:g.20413A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.338A>T MANE Select	ENSP00000242375.3:p.Tyr113Phe
ENST00000242375.7:c.338A>T	ENSP00000242375.3:p.Tyr113Phe
ENST00000411726.6:c.338A>T	ENSP00000402374.2:p.Tyr113Phe
ENST00000432161.5:c.338A>T	ENSP00000389197.1:p.Tyr113Phe
ENST00000438242.1:c.170A>T	ENSP00000397042.1:p.Tyr57Phe
ENST00000468877.2:n.248A>T
ENST00000470851.1:n.2A>T
NM_001190906.1:c.338A>T	NP_001177835.1:p.Tyr113Phe
NM_001190907.1:c.338A>T	NP_001177836.1:p.Tyr113Phe
NM_005989.3:c.338A>T	NP_005980.1:p.Tyr113Phe
NM_005989.4:c.338A>T MANE Select	NP_005980.1:p.Tyr113Phe
NM_001190906.2:c.338A>T	NP_001177835.1:p.Tyr113Phe
NM_001190907.2:c.338A>T	NP_001177836.1:p.Tyr113Phe