Canonical Allele Identifier: CA369359423

Gene: AKR1D1

Linked Data

• MyVariant Identifiers: chr7:g.137776627T>A (hg19) ; chr7:g.138091881T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091881T>A , CM000669.2:g.138091881T>A	GRCh38
NC_000007.13:g.137776627T>A , CM000669.1:g.137776627T>A	GRCh37
NC_000007.12:g.137427167T>A	NCBI36
NG_023342.1:g.20450T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.375T>A MANE Select	ENSP00000242375.3:p.Phe125Leu
ENST00000242375.7:c.375T>A	ENSP00000242375.3:p.Phe125Leu
ENST00000411726.6:c.375T>A	ENSP00000402374.2:p.Phe125Leu
ENST00000432161.5:c.375T>A	ENSP00000389197.1:p.Phe125Leu
ENST00000438242.1:c.207T>A	ENSP00000397042.1:p.Phe69Leu
ENST00000468877.2:n.285T>A
ENST00000470851.1:n.39T>A
NM_001190906.1:c.375T>A	NP_001177835.1:p.Phe125Leu
NM_001190907.1:c.375T>A	NP_001177836.1:p.Phe125Leu
NM_005989.3:c.375T>A	NP_005980.1:p.Phe125Leu
NM_005989.4:c.375T>A MANE Select	NP_005980.1:p.Phe125Leu
NM_001190906.2:c.375T>A	NP_001177835.1:p.Phe125Leu
NM_001190907.2:c.375T>A	NP_001177836.1:p.Phe125Leu