Canonical Allele Identifier: CA10628214

Gene: AKR1D1

Linked Data

• ClinVar Variation Id: 358954
• ClinVar RCV Id: RCV000398162
• dbSNP Id: rs886062004
• gnomAD v4: 7-138091852-C-G
• MyVariant Identifiers: chr7:g.137776598C>G (hg19) ; chr7:g.138091852C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091852C>G , CM000669.2:g.138091852C>G	GRCh38
NC_000007.13:g.137776598C>G , CM000669.1:g.137776598C>G	GRCh37
NC_000007.12:g.137427138C>G	NCBI36
NG_023342.1:g.20421C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.346C>G MANE Select	ENSP00000242375.3:p.Leu116Val
ENST00000242375.7:c.346C>G	ENSP00000242375.3:p.Leu116Val
ENST00000411726.6:c.346C>G	ENSP00000402374.2:p.Leu116Val
ENST00000432161.5:c.346C>G	ENSP00000389197.1:p.Leu116Val
ENST00000438242.1:c.178C>G	ENSP00000397042.1:p.Leu60Val
ENST00000468877.2:n.256C>G
ENST00000470851.1:n.10C>G
NM_001190906.1:c.346C>G	NP_001177835.1:p.Leu116Val
NM_001190907.1:c.346C>G	NP_001177836.1:p.Leu116Val
NM_005989.3:c.346C>G	NP_005980.1:p.Leu116Val
NM_005989.4:c.346C>G MANE Select	NP_005980.1:p.Leu116Val
NM_001190906.2:c.346C>G	NP_001177835.1:p.Leu116Val
NM_001190907.2:c.346C>G	NP_001177836.1:p.Leu116Val