Canonical Allele Identifier: CA397405251

Gene: KIAA0753

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6595054C>G , CM000679.2:g.6595054C>G	GRCh38
NC_000017.10:g.6498374C>G , CM000679.1:g.6498374C>G	GRCh37
NC_000017.9:g.6439098C>G	NCBI36
NG_054885.1:g.50874G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014804.3:c.2359-1G>C MANE Select	NP_055619.2:n.2359-1G>C
ENST00000361413.8:c.2359-1G>C MANE Select	ENSP00000355250.3:n.2359-1G>C
NM_001351225.1:c.1462-1G>C	NP_001338154.1:n.1462-1G>C
NM_001351225.2:c.1462-1G>C	NP_001338154.1:n.1462-1G>C
NM_014804.2:c.2359-1G>C	NP_055619.2:n.2359-1G>C
NR_147086.1:n.2381-1G>C
NR_147086.2:n.2165-1G>C
NR_147087.1:n.2718-1G>C
NR_147087.2:n.2502-1G>C
NR_147088.1:n.2825-1G>C
NR_147088.2:n.2609-1G>C
ENST00000361413.7:c.2359-1G>C	ENSP00000355250.3:n.2359-1G>C
ENST00000542826.6:c.934-1G>C
ENST00000570790.5:c.*1505-1G>C	ENSP00000460816.1:n.*1505-1G>C
ENST00000572370.5:c.1462-1G>C	ENSP00000460050.1:n.1462-1G>C
ENST00000575027.1:n.406-1G>C
ENST00000634965.3:c.*3309-1G>C	ENSP00000499350.1:n.*3309-1G>C
XM_006721611.1:c.2359-1G>C	XP_006721674.1:n.2359-1G>C
XM_006721612.1:c.1462-1G>C	XP_006721675.1:n.1462-1G>C
XM_006721612.2:c.1462-1G>C	XP_006721675.1:n.1462-1G>C
XM_011524090.1:c.2425-1G>C	XP_011522392.1:n.2425-1G>C
XM_011524090.3:c.2425-1G>C	XP_011522392.1:n.2425-1G>C
XM_011524091.1:c.2425-1G>C	XP_011522393.1:n.2425-1G>C
XM_011524091.2:c.2425-1G>C	XP_011522393.1:n.2425-1G>C
XM_011524092.1:c.2425-1G>C	XP_011522394.1:n.2425-1G>C
XM_011524093.1:c.2425-1G>C	XP_011522395.1:n.2425-1G>C
XM_011524094.1:c.2425-1G>C	XP_011522396.1:n.2425-1G>C
XM_011524095.1:c.2425-1G>C	XP_011522397.1:n.2425-1G>C
XM_011524095.2:c.2425-1G>C	XP_011522397.1:n.2425-1G>C
XM_011524096.1:c.2425-1G>C	XP_011522398.1:n.2425-1G>C
XM_011524096.2:c.2425-1G>C	XP_011522398.1:n.2425-1G>C
XM_011524097.1:c.2425-1G>C	XP_011522399.1:n.2425-1G>C
XM_011524098.1:c.1528-1G>C	XP_011522400.1:n.1528-1G>C
XM_011524098.2:c.1528-1G>C	XP_011522400.1:n.1528-1G>C
XM_011524099.1:c.1528-1G>C	XP_011522401.1:n.1528-1G>C
XM_011524099.2:c.1528-1G>C	XP_011522401.1:n.1528-1G>C
XM_011524100.1:c.1528-1G>C	XP_011522402.1:n.1528-1G>C
XM_011524100.3:c.1528-1G>C	XP_011522402.1:n.1528-1G>C
XM_017025455.2:c.2425-1G>C	XP_016880944.1:n.2425-1G>C
XR_001752707.2:n.2521-1G>C
XR_001752708.2:n.2587-1G>C
XR_001752709.2:n.2521-1G>C
XR_934126.1:n.2784-1G>C
XR_934126.2:n.2587-1G>C