Canonical Allele Identifier: CA8330743

Gene: KIAA0753

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6628232A>C , CM000679.2:g.6628232A>C	GRCh38
NC_000017.10:g.6531552A>C , CM000679.1:g.6531552A>C	GRCh37
NC_000017.9:g.6472276A>C	NCBI36
NG_054885.1:g.17696T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634965.3:c.*1553T>G	ENSP00000499350.1:n.*1553T>G
ENST00000361413.8:c.603T>G MANE Select	ENSP00000355250.3:p.His201Gln
ENST00000361413.7:c.603T>G	ENSP00000355250.3:p.His201Gln
ENST00000570790.5:c.603T>G	ENSP00000460816.1:p.His201Gln
ENST00000572235.1:c.51T>G	ENSP00000459530.1:p.His17Gln
ENST00000572370.5:c.-314T>G	ENSP00000460050.1:n.-314T>G
ENST00000576823.1:n.256T>G
NM_014804.2:c.603T>G	NP_055619.2:p.His201Gln
XM_006721611.1:c.603T>G	XP_006721674.1:p.His201Gln
XM_006721612.1:c.-314T>G	XP_006721675.1:n.-314T>G
XM_011524090.1:c.603T>G	XP_011522392.1:p.His201Gln
XM_011524091.1:c.603T>G	XP_011522393.1:p.His201Gln
XM_011524092.1:c.603T>G	XP_011522394.1:p.His201Gln
XM_011524093.1:c.603T>G	XP_011522395.1:p.His201Gln
XM_011524094.1:c.603T>G	XP_011522396.1:p.His201Gln
XM_011524095.1:c.603T>G	XP_011522397.1:p.His201Gln
XM_011524096.1:c.603T>G	XP_011522398.1:p.His201Gln
XM_011524097.1:c.603T>G	XP_011522399.1:p.His201Gln
XM_011524098.1:c.-632T>G	XP_011522400.1:n.-632T>G
XM_011524099.1:c.-314T>G	XP_011522401.1:n.-314T>G
XR_934126.1:n.962T>G
NM_001351225.1:c.-632T>G	NP_001338154.1:n.-632T>G
NR_147086.1:n.962T>G
NR_147087.1:n.962T>G
NR_147088.1:n.962T>G
XM_006721612.2:c.-314T>G	XP_006721675.1:n.-314T>G
XM_011524090.3:c.603T>G	XP_011522392.1:p.His201Gln
XM_011524091.2:c.603T>G	XP_011522393.1:p.His201Gln
XM_011524095.2:c.603T>G	XP_011522397.1:p.His201Gln
XM_011524096.2:c.603T>G	XP_011522398.1:p.His201Gln
XM_011524098.2:c.-632T>G	XP_011522400.1:n.-632T>G
XM_011524099.2:c.-314T>G	XP_011522401.1:n.-314T>G
XM_017025455.2:c.603T>G	XP_016880944.1:p.His201Gln
XR_001752707.2:n.765T>G
XR_001752708.2:n.765T>G
XR_001752709.2:n.765T>G
XR_934126.2:n.765T>G
NM_014804.3:c.603T>G MANE Select	NP_055619.2:p.His201Gln
NM_001351225.2:c.-632T>G	NP_001338154.1:n.-632T>G
NR_147086.2:n.746T>G
NR_147087.2:n.746T>G
NR_147088.2:n.746T>G