Canonical Allele Identifier: CA117467
Gene: AKR1D1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5376
ClinVar RCV Id: RCV000005707
dbSNP Id: rs121918343

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138091822C>T , CM000669.2:g.138091822C>T GRCh38
NC_000007.13:g.137776568C>T , CM000669.1:g.137776568C>T GRCh37
NC_000007.12:g.137427108C>T NCBI36
NG_023342.1:g.20391C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242375.8:c.316C>T MANE Select ENSP00000242375.3:p.Leu106Phe
ENST00000242375.7:c.316C>T ENSP00000242375.3:p.Leu106Phe
ENST00000411726.6:c.316C>T ENSP00000402374.2:p.Leu106Phe
ENST00000432161.5:c.316C>T ENSP00000389197.1:p.Leu106Phe
ENST00000438242.1:c.148C>T ENSP00000397042.1:p.Leu50Phe
ENST00000468877.2:n.226C>T
NM_001190906.1:c.316C>T NP_001177835.1:p.Leu106Phe
NM_001190907.1:c.316C>T NP_001177836.1:p.Leu106Phe
NM_005989.3:c.316C>T NP_005980.1:p.Leu106Phe
NM_005989.4:c.316C>T MANE Select NP_005980.1:p.Leu106Phe
NM_001190906.2:c.316C>T NP_001177835.1:p.Leu106Phe
NM_001190907.2:c.316C>T NP_001177836.1:p.Leu106Phe