Canonical Allele Identifier: CA1616548912

Gene: KIAA0319

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24596256C= , CM000668.2:g.24596256C=	GRCh38
NC_000006.11:g.24596484C= , CM000668.1:g.24596484C=	GRCh37
NC_000006.10:g.24704463C=	NCBI36
NG_016206.1:g.54900G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378214.8:c.418G= MANE Select	ENSP00000367459.3:p.Asp140=
ENST00000378214.7:c.418G=	ENSP00000367459.3:p.Asp140=
ENST00000430948.6:c.283G=	ENSP00000401086.2:p.Asp95=
ENST00000535378.5:c.391G=	ENSP00000442403.1:p.Asp131=
ENST00000537886.5:c.418G=	ENSP00000439700.1:p.Asp140=
ENST00000543707.2:c.418G=	ENSP00000437656.1:p.Asp140=
NM_001168374.1:c.391G=	NP_001161846.1:p.Asp131=
NM_001168375.1:c.418G=	NP_001161847.1:p.Asp140=
NM_001168376.1:c.283G=	NP_001161848.1:p.Asp95=
NM_001168377.1:c.418G=	NP_001161849.1:p.Asp140=
NM_014809.3:c.418G=	NP_055624.2:p.Asp140=
XM_006715288.2:c.-23-16G=	XP_006715351.1:n.-23-16G=
XM_011515022.1:c.436G=	XP_011513324.1:p.Asp146=
XM_011515023.1:c.436G=	XP_011513325.1:p.Asp146=
XM_011515024.1:c.436G=	XP_011513326.1:p.Asp146=
XM_011515025.1:c.418G=	XP_011513327.1:p.Asp140=
XM_011515026.1:c.283G=	XP_011513328.1:p.Asp95=
NM_001350403.1:c.418G=	NP_001337332.1:p.Asp140=
NM_001350404.1:c.400G=	NP_001337333.1:p.Asp134=
NM_001350405.1:c.418G=	NP_001337334.1:p.Asp140=
NM_001350406.1:c.283G=	NP_001337335.1:p.Asp95=
NM_001350407.1:c.418G=	NP_001337336.1:p.Asp140=
NM_001350408.1:c.418G=	NP_001337337.1:p.Asp140=
NM_001350409.1:c.-23-16G=	NP_001337338.1:n.-23-16G=
NM_001350410.1:c.-23-16G=	NP_001337339.1:n.-23-16G=
XM_011515026.3:c.283G=	XP_011513328.1:p.Asp95=
XM_017011541.1:c.391G=	XP_016867030.1:p.Asp131=
XM_017011542.2:c.418G=	XP_016867031.1:p.Asp140=
XM_017011544.1:c.418G=	XP_016867033.1:p.Asp140=
XM_017011546.2:c.418G=	XP_016867035.1:p.Asp140=
XM_017011547.1:c.418G=	XP_016867036.1:p.Asp140=
XM_017011550.1:c.418G=	XP_016867039.1:p.Asp140=
XM_017011551.1:c.418G=	XP_016867040.1:p.Asp140=
XR_001743779.1:n.661G=
XR_001743780.1:n.661G=
NM_014809.4:c.418G= MANE Select	NP_055624.2:p.Asp140=
NM_001168375.2:c.418G=	NP_001161847.1:p.Asp140=
NM_001350403.2:c.418G=	NP_001337332.1:p.Asp140=
NM_001350404.2:c.400G=	NP_001337333.1:p.Asp134=
NM_001350405.2:c.418G=	NP_001337334.1:p.Asp140=
NM_001350406.2:c.283G=	NP_001337335.1:p.Asp95=
NM_001350407.2:c.418G=	NP_001337336.1:p.Asp140=
NM_001350408.2:c.418G=	NP_001337337.1:p.Asp140=
NM_001350409.2:c.-23-16G=	NP_001337338.1:n.-23-16G=
NM_001350410.2:c.-23-16G=	NP_001337339.1:n.-23-16G=
NM_001168374.2:c.391G=	NP_001161846.1:p.Asp131=
NM_001168376.2:c.283G=	NP_001161848.1:p.Asp95=
NM_001168377.2:c.418G=	NP_001161849.1:p.Asp140=