Canonical Allele Identifier: CA8985991

Gene: KDSR

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.63335257C>T , CM000680.2:g.63335257C>T	GRCh38
NC_000018.9:g.61002490C>T , CM000680.1:g.61002490C>T	GRCh37
NC_000018.8:g.59153470C>T	NCBI36
NG_028249.1:g.37017G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002035.4:c.879G>A MANE Select	NP_002026.1:p.Gln293=
ENST00000645214.2:c.879G>A MANE Select	ENSP00000494352.1:p.Gln293=
NM_002035.2:c.879G>A	NP_002026.1:p.Gln293=
ENST00000326575.9:c.687G>A	ENSP00000312939.5:p.Gln229=
ENST00000406396.7:c.879G>A	ENSP00000385083.2:p.Gln293=
ENST00000586791.5:n.2307G>A
ENST00000588089.1:n.767G>A
ENST00000589592.1:n.429G>A
ENST00000591902.5:c.493-3356G>A	ENSP00000468203.1:n.493-3356G>A
ENST00000591902.6:c.778-3356G>A	ENSP00000468203.2:n.778-3356G>A
ENST00000644624.1:c.*818G>A	ENSP00000494878.1:n.*818G>A
ENST00000646205.1:c.*1029G>A	ENSP00000496260.1:n.*1029G>A
XM_005266677.1:c.778-3356G>A	XP_005266734.1:n.778-3356G>A
XM_005266677.3:c.778-3356G>A	XP_005266734.1:n.778-3356G>A
XM_006722433.2:c.792G>A	XP_006722496.1:p.Gln264=
XM_017025690.2:c.648G>A	XP_016881179.1:p.Gln216=