Canonical Allele Identifier: CA4502653

Gene: AKR1D1

Linked Data

• dbSNP Id: rs760738008
• ExAC: 7:137776570 C / A
• gnomAD v2: 7-137776570-C-A
• gnomAD v3: 7-138091824-C-A
• gnomAD v4: 7-138091824-C-A
• MyVariant Identifiers: chr7:g.137776570C>A (hg19) ; chr7:g.138091824C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091824C>A , CM000669.2:g.138091824C>A	GRCh38
NC_000007.13:g.137776570C>A , CM000669.1:g.137776570C>A	GRCh37
NC_000007.12:g.137427110C>A	NCBI36
NG_023342.1:g.20393C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.318C>A MANE Select	ENSP00000242375.3:p.Leu106=
ENST00000242375.7:c.318C>A	ENSP00000242375.3:p.Leu106=
ENST00000411726.6:c.318C>A	ENSP00000402374.2:p.Leu106=
ENST00000432161.5:c.318C>A	ENSP00000389197.1:p.Leu106=
ENST00000438242.1:c.150C>A	ENSP00000397042.1:p.Leu50=
ENST00000468877.2:n.228C>A
NM_001190906.1:c.318C>A	NP_001177835.1:p.Leu106=
NM_001190907.1:c.318C>A	NP_001177836.1:p.Leu106=
NM_005989.3:c.318C>A	NP_005980.1:p.Leu106=
NM_005989.4:c.318C>A MANE Select	NP_005980.1:p.Leu106=
NM_001190906.2:c.318C>A	NP_001177835.1:p.Leu106=
NM_001190907.2:c.318C>A	NP_001177836.1:p.Leu106=