Canonical Allele Identifier: CA8330191

Gene: KIAA0753

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6596178G>A , CM000679.2:g.6596178G>A	GRCh38
NC_000017.10:g.6499498G>A , CM000679.1:g.6499498G>A	GRCh37
NC_000017.9:g.6440222G>A	NCBI36
NG_054885.1:g.49750C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014804.3:c.2338C>T MANE Select	NP_055619.2:p.Arg780Cys
ENST00000361413.8:c.2338C>T MANE Select	ENSP00000355250.3:p.Arg780Cys
NM_001351225.1:c.1441C>T	NP_001338154.1:p.Arg481Cys
NM_001351225.2:c.1441C>T	NP_001338154.1:p.Arg481Cys
NM_014804.2:c.2338C>T	NP_055619.2:p.Arg780Cys
NR_147086.1:n.2360C>T
NR_147086.2:n.2144C>T
NR_147087.1:n.2697C>T
NR_147087.2:n.2481C>T
NR_147088.1:n.2804C>T
NR_147088.2:n.2588C>T
ENST00000361413.7:c.2338C>T	ENSP00000355250.3:p.Arg780Cys
ENST00000542826.6:c.913C>T
ENST00000570790.5:c.*1484C>T	ENSP00000460816.1:n.*1484C>T
ENST00000572370.5:c.1441C>T	ENSP00000460050.1:p.Arg481Cys
ENST00000575027.1:n.385C>T
ENST00000634965.3:c.*3288C>T	ENSP00000499350.1:n.*3288C>T
XM_006721611.1:c.2338C>T	XP_006721674.1:p.Arg780Cys
XM_006721612.1:c.1441C>T	XP_006721675.1:p.Arg481Cys
XM_006721612.2:c.1441C>T	XP_006721675.1:p.Arg481Cys
XM_011524090.1:c.2404C>T	XP_011522392.1:p.Arg802Cys
XM_011524090.3:c.2404C>T	XP_011522392.1:p.Arg802Cys
XM_011524091.1:c.2404C>T	XP_011522393.1:p.Arg802Cys
XM_011524091.2:c.2404C>T	XP_011522393.1:p.Arg802Cys
XM_011524092.1:c.2404C>T	XP_011522394.1:p.Arg802Cys
XM_011524093.1:c.2404C>T	XP_011522395.1:p.Arg802Cys
XM_011524094.1:c.2404C>T	XP_011522396.1:p.Arg802Cys
XM_011524095.1:c.2404C>T	XP_011522397.1:p.Arg802Cys
XM_011524095.2:c.2404C>T	XP_011522397.1:p.Arg802Cys
XM_011524096.1:c.2404C>T	XP_011522398.1:p.Arg802Cys
XM_011524096.2:c.2404C>T	XP_011522398.1:p.Arg802Cys
XM_011524097.1:c.2404C>T	XP_011522399.1:p.Arg802Cys
XM_011524098.1:c.1507C>T	XP_011522400.1:p.Arg503Cys
XM_011524098.2:c.1507C>T	XP_011522400.1:p.Arg503Cys
XM_011524099.1:c.1507C>T	XP_011522401.1:p.Arg503Cys
XM_011524099.2:c.1507C>T	XP_011522401.1:p.Arg503Cys
XM_011524100.1:c.1507C>T	XP_011522402.1:p.Arg503Cys
XM_011524100.3:c.1507C>T	XP_011522402.1:p.Arg503Cys
XM_017025455.2:c.2404C>T	XP_016880944.1:p.Arg802Cys
XR_001752707.2:n.2500C>T
XR_001752708.2:n.2566C>T
XR_001752709.2:n.2500C>T
XR_934126.1:n.2763C>T
XR_934126.2:n.2566C>T