Canonical Allele Identifier: CA369359345

Gene: AKR1D1

Linked Data

• MyVariant Identifiers: chr7:g.137776592G>C (hg19) ; chr7:g.138091846G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091846G>C , CM000669.2:g.138091846G>C	GRCh38
NC_000007.13:g.137776592G>C , CM000669.1:g.137776592G>C	GRCh37
NC_000007.12:g.137427132G>C	NCBI36
NG_023342.1:g.20415G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.340G>C MANE Select	ENSP00000242375.3:p.Val114Leu
ENST00000242375.7:c.340G>C	ENSP00000242375.3:p.Val114Leu
ENST00000411726.6:c.340G>C	ENSP00000402374.2:p.Val114Leu
ENST00000432161.5:c.340G>C	ENSP00000389197.1:p.Val114Leu
ENST00000438242.1:c.172G>C	ENSP00000397042.1:p.Val58Leu
ENST00000468877.2:n.250G>C
ENST00000470851.1:n.4G>C
NM_001190906.1:c.340G>C	NP_001177835.1:p.Val114Leu
NM_001190907.1:c.340G>C	NP_001177836.1:p.Val114Leu
NM_005989.3:c.340G>C	NP_005980.1:p.Val114Leu
NM_005989.4:c.340G>C MANE Select	NP_005980.1:p.Val114Leu
NM_001190906.2:c.340G>C	NP_001177835.1:p.Val114Leu
NM_001190907.2:c.340G>C	NP_001177836.1:p.Val114Leu