Canonical Allele Identifier: CA4502668

Gene: AKR1D1

Linked Data

• dbSNP Id: rs773103738
• ExAC: 7:137776653 C / G
• gnomAD v4: 7-138091907-C-G
• MyVariant Identifiers: chr7:g.137776653C>G (hg19) ; chr7:g.138091907C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091907C>G , CM000669.2:g.138091907C>G	GRCh38
NC_000007.13:g.137776653C>G , CM000669.1:g.137776653C>G	GRCh37
NC_000007.12:g.137427193C>G	NCBI36
NG_023342.1:g.20476C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.378+23C>G MANE Select	ENSP00000242375.3:n.378+23C>G
ENST00000242375.7:c.378+23C>G	ENSP00000242375.3:n.378+23C>G
ENST00000411726.6:c.378+23C>G	ENSP00000402374.2:n.378+23C>G
ENST00000432161.5:c.378+23C>G	ENSP00000389197.1:n.378+23C>G
ENST00000438242.1:c.210+23C>G	ENSP00000397042.1:n.210+23C>G
ENST00000468877.2:n.288+23C>G
ENST00000470851.1:n.42+23C>G
NM_001190906.1:c.378+23C>G	NP_001177835.1:n.378+23C>G
NM_001190907.1:c.378+23C>G	NP_001177836.1:n.378+23C>G
NM_005989.3:c.378+23C>G	NP_005980.1:n.378+23C>G
NM_005989.4:c.378+23C>G MANE Select	NP_005980.1:n.378+23C>G
NM_001190906.2:c.378+23C>G	NP_001177835.1:n.378+23C>G
NM_001190907.2:c.378+23C>G	NP_001177836.1:n.378+23C>G