Canonical Allele Identifier: CA8330389

Gene: KIAA0753

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6608461A>G , CM000679.2:g.6608461A>G	GRCh38
NC_000017.10:g.6511781A>G , CM000679.1:g.6511781A>G	GRCh37
NC_000017.9:g.6452505A>G	NCBI36
NG_054885.1:g.37467T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014804.3:c.1716T>C MANE Select	NP_055619.2:p.Ala572=
ENST00000361413.8:c.1716T>C MANE Select	ENSP00000355250.3:p.Ala572=
NM_001351225.1:c.819T>C	NP_001338154.1:p.Ala273=
NM_001351225.2:c.819T>C	NP_001338154.1:p.Ala273=
NM_014804.2:c.1716T>C	NP_055619.2:p.Ala572=
NR_147086.1:n.1738T>C
NR_147086.2:n.1522T>C
NR_147087.1:n.2075T>C
NR_147087.2:n.1859T>C
NR_147088.1:n.2182T>C
NR_147088.2:n.1966T>C
ENST00000361413.7:c.1716T>C	ENSP00000355250.3:p.Ala572=
ENST00000542826.6:c.291T>C
ENST00000570790.5:c.*862T>C	ENSP00000460816.1:n.*862T>C
ENST00000572370.5:c.819T>C	ENSP00000460050.1:p.Ala273=
ENST00000634965.3:c.*2666T>C	ENSP00000499350.1:n.*2666T>C
XM_006721611.1:c.1716T>C	XP_006721674.1:p.Ala572=
XM_006721612.1:c.819T>C	XP_006721675.1:p.Ala273=
XM_006721612.2:c.819T>C	XP_006721675.1:p.Ala273=
XM_011524090.1:c.1716T>C	XP_011522392.1:p.Ala572=
XM_011524090.3:c.1716T>C	XP_011522392.1:p.Ala572=
XM_011524091.1:c.1716T>C	XP_011522393.1:p.Ala572=
XM_011524091.2:c.1716T>C	XP_011522393.1:p.Ala572=
XM_011524092.1:c.1716T>C	XP_011522394.1:p.Ala572=
XM_011524093.1:c.1716T>C	XP_011522395.1:p.Ala572=
XM_011524094.1:c.1716T>C	XP_011522396.1:p.Ala572=
XM_011524095.1:c.1716T>C	XP_011522397.1:p.Ala572=
XM_011524095.2:c.1716T>C	XP_011522397.1:p.Ala572=
XM_011524096.1:c.1716T>C	XP_011522398.1:p.Ala572=
XM_011524096.2:c.1716T>C	XP_011522398.1:p.Ala572=
XM_011524097.1:c.1716T>C	XP_011522399.1:p.Ala572=
XM_011524098.1:c.819T>C	XP_011522400.1:p.Ala273=
XM_011524098.2:c.819T>C	XP_011522400.1:p.Ala273=
XM_011524099.1:c.819T>C	XP_011522401.1:p.Ala273=
XM_011524099.2:c.819T>C	XP_011522401.1:p.Ala273=
XM_011524100.1:c.819T>C	XP_011522402.1:p.Ala273=
XM_011524100.3:c.819T>C	XP_011522402.1:p.Ala273=
XM_017025455.2:c.1716T>C	XP_016880944.1:p.Ala572=
XR_001752707.2:n.1878T>C
XR_001752708.2:n.1878T>C
XR_001752709.2:n.1878T>C
XR_934126.1:n.2075T>C
XR_934126.2:n.1878T>C