Canonical Allele Identifier: CA402633764

Gene: KDSR

Linked Data

• dbSNP Id: rs769130769
• gnomAD v4: 18-63362814-G-T
• MyVariant Identifiers: chr18:g.61030047G>T (hg19) ; chr18:g.63362814G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63362814G>T , CM000680.2:g.63362814G>T	GRCh38
NC_000018.9:g.61030047G>T , CM000680.1:g.61030047G>T	GRCh37
NC_000018.8:g.59181027G>T	NCBI36
NG_028249.1:g.9460C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000591902.6:c.163C>A	ENSP00000468203.2:p.Gln55Lys
ENST00000644624.1:c.*102C>A	ENSP00000494878.1:n.*102C>A
ENST00000645214.2:c.163C>A MANE Select	ENSP00000494352.1:p.Gln55Lys
ENST00000646205.1:c.*313C>A	ENSP00000496260.1:n.*313C>A
ENST00000326575.9:c.163C>A	ENSP00000312939.5:p.Gln55Lys
ENST00000406396.7:c.163C>A	ENSP00000385083.2:p.Gln55Lys
ENST00000585456.1:n.173C>A
ENST00000589530.5:n.248C>A
ENST00000592327.1:c.163C>A	ENSP00000467962.1:p.Gln55Lys
NM_002035.2:c.163C>A	NP_002026.1:p.Gln55Lys
XM_005266677.1:c.163C>A	XP_005266734.1:p.Gln55Lys
XM_006722433.2:c.76C>A	XP_006722496.1:p.Gln26Lys
NM_002035.4:c.163C>A MANE Select	NP_002026.1:p.Gln55Lys
XM_005266677.3:c.163C>A	XP_005266734.1:p.Gln55Lys
XM_017025690.2:c.-69C>A	XP_016881179.1:n.-69C>A