Canonical Allele Identifier: CA4502642

Gene: AKR1D1

Linked Data

• dbSNP Id: rs756810382
• ExAC: 7:137776508 T / C
• gnomAD v2: 7-137776508-T-C
• gnomAD v4: 7-138091762-T-C
• MyVariant Identifiers: chr7:g.137776508T>C (hg19) ; chr7:g.138091762T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091762T>C , CM000669.2:g.138091762T>C	GRCh38
NC_000007.13:g.137776508T>C , CM000669.1:g.137776508T>C	GRCh37
NC_000007.12:g.137427048T>C	NCBI36
NG_023342.1:g.20331T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.262-6T>C MANE Select	ENSP00000242375.3:n.262-6T>C
ENST00000242375.7:c.262-6T>C	ENSP00000242375.3:n.262-6T>C
ENST00000411726.6:c.262-6T>C	ENSP00000402374.2:n.262-6T>C
ENST00000432161.5:c.262-6T>C	ENSP00000389197.1:n.262-6T>C
ENST00000438242.1:c.94-6T>C	ENSP00000397042.1:n.94-6T>C
ENST00000468877.2:n.222-56T>C
NM_001190906.1:c.262-6T>C	NP_001177835.1:n.262-6T>C
NM_001190907.1:c.262-6T>C	NP_001177836.1:n.262-6T>C
NM_005989.3:c.262-6T>C	NP_005980.1:n.262-6T>C
NM_005989.4:c.262-6T>C MANE Select	NP_005980.1:n.262-6T>C
NM_001190906.2:c.262-6T>C	NP_001177835.1:n.262-6T>C
NM_001190907.2:c.262-6T>C	NP_001177836.1:n.262-6T>C