Canonical Allele Identifier: CA369359154

Gene: AKR1D1

Linked Data

• ClinVar Variation Id: 915290
• ClinVar RCV Id: RCV001169872
• dbSNP Id: rs1236669456
• MyVariant Identifiers: chr7:g.137776519G>A (hg19) ; chr7:g.138091773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091773G>A , CM000669.2:g.138091773G>A	GRCh38
NC_000007.13:g.137776519G>A , CM000669.1:g.137776519G>A	GRCh37
NC_000007.12:g.137427059G>A	NCBI36
NG_023342.1:g.20342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.267G>A MANE Select	ENSP00000242375.3:p.Trp89Ter
ENST00000242375.7:c.267G>A	ENSP00000242375.3:p.Trp89Ter
ENST00000411726.6:c.267G>A	ENSP00000402374.2:p.Trp89Ter
ENST00000432161.5:c.267G>A	ENSP00000389197.1:p.Trp89Ter
ENST00000438242.1:c.99G>A	ENSP00000397042.1:p.Trp33Ter
ENST00000468877.2:n.222-45G>A
NM_001190906.1:c.267G>A	NP_001177835.1:p.Trp89Ter
NM_001190907.1:c.267G>A	NP_001177836.1:p.Trp89Ter
NM_005989.3:c.267G>A	NP_005980.1:p.Trp89Ter
NM_005989.4:c.267G>A MANE Select	NP_005980.1:p.Trp89Ter
NM_001190906.2:c.267G>A	NP_001177835.1:p.Trp89Ter
NM_001190907.2:c.267G>A	NP_001177836.1:p.Trp89Ter