Canonical Allele Identifier: CA369359304

Gene: AKR1D1

Linked Data

• ClinVar Variation Id: 3107939
• ClinVar RCV Id: RCV004397772
• MyVariant Identifiers: chr7:g.137776573G>C (hg19) ; chr7:g.138091827G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091827G>C , CM000669.2:g.138091827G>C	GRCh38
NC_000007.13:g.137776573G>C , CM000669.1:g.137776573G>C	GRCh37
NC_000007.12:g.137427113G>C	NCBI36
NG_023342.1:g.20396G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.321G>C MANE Select	ENSP00000242375.3:p.Arg107Ser
ENST00000242375.7:c.321G>C	ENSP00000242375.3:p.Arg107Ser
ENST00000411726.6:c.321G>C	ENSP00000402374.2:p.Arg107Ser
ENST00000432161.5:c.321G>C	ENSP00000389197.1:p.Arg107Ser
ENST00000438242.1:c.153G>C	ENSP00000397042.1:p.Arg51Ser
ENST00000468877.2:n.231G>C
NM_001190906.1:c.321G>C	NP_001177835.1:p.Arg107Ser
NM_001190907.1:c.321G>C	NP_001177836.1:p.Arg107Ser
NM_005989.3:c.321G>C	NP_005980.1:p.Arg107Ser
NM_005989.4:c.321G>C MANE Select	NP_005980.1:p.Arg107Ser
NM_001190906.2:c.321G>C	NP_001177835.1:p.Arg107Ser
NM_001190907.2:c.321G>C	NP_001177836.1:p.Arg107Ser