Canonical Allele Identifier: CA8330698

Gene: KIAA0753

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6624770G>A , CM000679.2:g.6624770G>A	GRCh38
NC_000017.10:g.6528090G>A , CM000679.1:g.6528090G>A	GRCh37
NC_000017.9:g.6468814G>A	NCBI36
NG_054885.1:g.21158C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014804.3:c.810C>T MANE Select	NP_055619.2:p.Tyr270=
ENST00000361413.8:c.810C>T MANE Select	ENSP00000355250.3:p.Tyr270=
NM_001351225.1:c.-425C>T	NP_001338154.1:n.-425C>T
NM_001351225.2:c.-425C>T	NP_001338154.1:n.-425C>T
NM_014804.2:c.810C>T	NP_055619.2:p.Tyr270=
NR_147086.1:n.1078-1199C>T
NR_147086.2:n.862-1199C>T
NR_147087.1:n.1078-764C>T
NR_147087.2:n.862-764C>T
NR_147088.1:n.1169C>T
NR_147088.2:n.953C>T
ENST00000361413.7:c.810C>T	ENSP00000355250.3:p.Tyr270=
ENST00000570790.5:c.719-1199C>T	ENSP00000460816.1:n.719-1199C>T
ENST00000572235.1:c.167-764C>T	ENSP00000459530.1:n.167-764C>T
ENST00000572370.5:c.-107C>T	ENSP00000460050.1:n.-107C>T
ENST00000576823.1:n.463C>T
ENST00000634965.3:c.*1760C>T	ENSP00000499350.1:n.*1760C>T
XM_006721611.1:c.810C>T	XP_006721674.1:p.Tyr270=
XM_006721612.1:c.-107C>T	XP_006721675.1:n.-107C>T
XM_006721612.2:c.-107C>T	XP_006721675.1:n.-107C>T
XM_011524090.1:c.810C>T	XP_011522392.1:p.Tyr270=
XM_011524090.3:c.810C>T	XP_011522392.1:p.Tyr270=
XM_011524091.1:c.810C>T	XP_011522393.1:p.Tyr270=
XM_011524091.2:c.810C>T	XP_011522393.1:p.Tyr270=
XM_011524092.1:c.810C>T	XP_011522394.1:p.Tyr270=
XM_011524093.1:c.810C>T	XP_011522395.1:p.Tyr270=
XM_011524094.1:c.810C>T	XP_011522396.1:p.Tyr270=
XM_011524095.1:c.810C>T	XP_011522397.1:p.Tyr270=
XM_011524095.2:c.810C>T	XP_011522397.1:p.Tyr270=
XM_011524096.1:c.810C>T	XP_011522398.1:p.Tyr270=
XM_011524096.2:c.810C>T	XP_011522398.1:p.Tyr270=
XM_011524097.1:c.810C>T	XP_011522399.1:p.Tyr270=
XM_011524098.1:c.-425C>T	XP_011522400.1:n.-425C>T
XM_011524098.2:c.-425C>T	XP_011522400.1:n.-425C>T
XM_011524099.1:c.-107C>T	XP_011522401.1:n.-107C>T
XM_011524099.2:c.-107C>T	XP_011522401.1:n.-107C>T
XM_011524100.1:c.-72-1199C>T	XP_011522402.1:n.-72-1199C>T
XM_011524100.3:c.-72-1199C>T	XP_011522402.1:n.-72-1199C>T
XM_017025455.2:c.810C>T	XP_016880944.1:p.Tyr270=
XR_001752707.2:n.972C>T
XR_001752708.2:n.972C>T
XR_001752709.2:n.972C>T
XR_934126.1:n.1169C>T
XR_934126.2:n.972C>T