Canonical Allele Identifier: CA402633787

Gene: KDSR

Linked Data

• MyVariant Identifiers: chr18:g.61030056A>G (hg19) ; chr18:g.63362823A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63362823A>G , CM000680.2:g.63362823A>G	GRCh38
NC_000018.9:g.61030056A>G , CM000680.1:g.61030056A>G	GRCh37
NC_000018.8:g.59181036A>G	NCBI36
NG_028249.1:g.9451T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000591902.6:c.154T>C	ENSP00000468203.2:p.Cys52Arg
ENST00000644624.1:c.*93T>C	ENSP00000494878.1:n.*93T>C
ENST00000645214.2:c.154T>C MANE Select	ENSP00000494352.1:p.Cys52Arg
ENST00000646205.1:c.*304T>C	ENSP00000496260.1:n.*304T>C
ENST00000326575.9:c.154T>C	ENSP00000312939.5:p.Cys52Arg
ENST00000406396.7:c.154T>C	ENSP00000385083.2:p.Cys52Arg
ENST00000585456.1:n.164T>C
ENST00000589530.5:n.239T>C
ENST00000592327.1:c.154T>C	ENSP00000467962.1:p.Cys52Arg
NM_002035.2:c.154T>C	NP_002026.1:p.Cys52Arg
XM_005266677.1:c.154T>C	XP_005266734.1:p.Cys52Arg
XM_006722433.2:c.67T>C	XP_006722496.1:p.Cys23Arg
NM_002035.4:c.154T>C MANE Select	NP_002026.1:p.Cys52Arg
XM_005266677.3:c.154T>C	XP_005266734.1:p.Cys52Arg
XM_017025690.2:c.-78T>C	XP_016881179.1:n.-78T>C