Canonical Allele Identifier: CA369359422

Gene: AKR1D1

Linked Data

• MyVariant Identifiers: chr7:g.137776626T>G (hg19) ; chr7:g.138091880T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091880T>G , CM000669.2:g.138091880T>G	GRCh38
NC_000007.13:g.137776626T>G , CM000669.1:g.137776626T>G	GRCh37
NC_000007.12:g.137427166T>G	NCBI36
NG_023342.1:g.20449T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.374T>G MANE Select	ENSP00000242375.3:p.Phe125Cys
ENST00000242375.7:c.374T>G	ENSP00000242375.3:p.Phe125Cys
ENST00000411726.6:c.374T>G	ENSP00000402374.2:p.Phe125Cys
ENST00000432161.5:c.374T>G	ENSP00000389197.1:p.Phe125Cys
ENST00000438242.1:c.206T>G	ENSP00000397042.1:p.Phe69Cys
ENST00000468877.2:n.284T>G
ENST00000470851.1:n.38T>G
NM_001190906.1:c.374T>G	NP_001177835.1:p.Phe125Cys
NM_001190907.1:c.374T>G	NP_001177836.1:p.Phe125Cys
NM_005989.3:c.374T>G	NP_005980.1:p.Phe125Cys
NM_005989.4:c.374T>G MANE Select	NP_005980.1:p.Phe125Cys
NM_001190906.2:c.374T>G	NP_001177835.1:p.Phe125Cys
NM_001190907.2:c.374T>G	NP_001177836.1:p.Phe125Cys