Canonical Allele Identifier: CA4502665

Gene: AKR1D1

Linked Data

• ClinVar Variation Id: 289189
• ClinVar RCV Id: RCV000330839
• dbSNP Id: rs201142773
• ExAC: 7:137776636 T / G
• gnomAD v2: 7-137776636-T-G
• gnomAD v3: 7-138091890-T-G
• gnomAD v4: 7-138091890-T-G
• MyVariant Identifiers: chr7:g.137776636T>G (hg19) ; chr7:g.138091890T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091890T>G , CM000669.2:g.138091890T>G	GRCh38
NC_000007.13:g.137776636T>G , CM000669.1:g.137776636T>G	GRCh37
NC_000007.12:g.137427176T>G	NCBI36
NG_023342.1:g.20459T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.378+6T>G MANE Select	ENSP00000242375.3:n.378+6T>G
ENST00000242375.7:c.378+6T>G	ENSP00000242375.3:n.378+6T>G
ENST00000411726.6:c.378+6T>G	ENSP00000402374.2:n.378+6T>G
ENST00000432161.5:c.378+6T>G	ENSP00000389197.1:n.378+6T>G
ENST00000438242.1:c.210+6T>G	ENSP00000397042.1:n.210+6T>G
ENST00000468877.2:n.288+6T>G
ENST00000470851.1:n.42+6T>G
NM_001190906.1:c.378+6T>G	NP_001177835.1:n.378+6T>G
NM_001190907.1:c.378+6T>G	NP_001177836.1:n.378+6T>G
NM_005989.3:c.378+6T>G	NP_005980.1:n.378+6T>G
NM_005989.4:c.378+6T>G MANE Select	NP_005980.1:n.378+6T>G
NM_001190906.2:c.378+6T>G	NP_001177835.1:n.378+6T>G
NM_001190907.2:c.378+6T>G	NP_001177836.1:n.378+6T>G