Canonical Allele Identifier: CA362971976
Gene: KIAA0319 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24596261C>A , CM000668.2:g.24596261C>A GRCh38
NC_000006.11:g.24596489C>A , CM000668.1:g.24596489C>A GRCh37
NC_000006.10:g.24704468C>A NCBI36
NG_016206.1:g.54895G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378214.8:c.413G>T MANE Select ENSP00000367459.3:p.Arg138Ile
ENST00000378214.7:c.413G>T ENSP00000367459.3:p.Arg138Ile
ENST00000430948.6:c.278G>T ENSP00000401086.2:p.Arg93Ile
ENST00000535378.5:c.386G>T ENSP00000442403.1:p.Arg129Ile
ENST00000537886.5:c.413G>T ENSP00000439700.1:p.Arg138Ile
ENST00000543707.2:c.413G>T ENSP00000437656.1:p.Arg138Ile
NM_001168374.1:c.386G>T NP_001161846.1:p.Arg129Ile
NM_001168375.1:c.413G>T NP_001161847.1:p.Arg138Ile
NM_001168376.1:c.278G>T NP_001161848.1:p.Arg93Ile
NM_001168377.1:c.413G>T NP_001161849.1:p.Arg138Ile
NM_014809.3:c.413G>T NP_055624.2:p.Arg138Ile
XM_006715288.2:c.-23-21G>T XP_006715351.1:n.-23-21G>T
XM_011515022.1:c.431G>T XP_011513324.1:p.Arg144Ile
XM_011515023.1:c.431G>T XP_011513325.1:p.Arg144Ile
XM_011515024.1:c.431G>T XP_011513326.1:p.Arg144Ile
XM_011515025.1:c.413G>T XP_011513327.1:p.Arg138Ile
XM_011515026.1:c.278G>T XP_011513328.1:p.Arg93Ile
NM_001350403.1:c.413G>T NP_001337332.1:p.Arg138Ile
NM_001350404.1:c.395G>T NP_001337333.1:p.Arg132Ile
NM_001350405.1:c.413G>T NP_001337334.1:p.Arg138Ile
NM_001350406.1:c.278G>T NP_001337335.1:p.Arg93Ile
NM_001350407.1:c.413G>T NP_001337336.1:p.Arg138Ile
NM_001350408.1:c.413G>T NP_001337337.1:p.Arg138Ile
NM_001350409.1:c.-23-21G>T NP_001337338.1:n.-23-21G>T
NM_001350410.1:c.-23-21G>T NP_001337339.1:n.-23-21G>T
XM_011515026.3:c.278G>T XP_011513328.1:p.Arg93Ile
XM_017011541.1:c.386G>T XP_016867030.1:p.Arg129Ile
XM_017011542.2:c.413G>T XP_016867031.1:p.Arg138Ile
XM_017011544.1:c.413G>T XP_016867033.1:p.Arg138Ile
XM_017011546.2:c.413G>T XP_016867035.1:p.Arg138Ile
XM_017011547.1:c.413G>T XP_016867036.1:p.Arg138Ile
XM_017011550.1:c.413G>T XP_016867039.1:p.Arg138Ile
XM_017011551.1:c.413G>T XP_016867040.1:p.Arg138Ile
XR_001743779.1:n.656G>T
XR_001743780.1:n.656G>T
NM_014809.4:c.413G>T MANE Select NP_055624.2:p.Arg138Ile
NM_001168375.2:c.413G>T NP_001161847.1:p.Arg138Ile
NM_001350403.2:c.413G>T NP_001337332.1:p.Arg138Ile
NM_001350404.2:c.395G>T NP_001337333.1:p.Arg132Ile
NM_001350405.2:c.413G>T NP_001337334.1:p.Arg138Ile
NM_001350406.2:c.278G>T NP_001337335.1:p.Arg93Ile
NM_001350407.2:c.413G>T NP_001337336.1:p.Arg138Ile
NM_001350408.2:c.413G>T NP_001337337.1:p.Arg138Ile
NM_001350409.2:c.-23-21G>T NP_001337338.1:n.-23-21G>T
NM_001350410.2:c.-23-21G>T NP_001337339.1:n.-23-21G>T
NM_001168374.2:c.386G>T NP_001161846.1:p.Arg129Ile
NM_001168376.2:c.278G>T NP_001161848.1:p.Arg93Ile
NM_001168377.2:c.413G>T NP_001161849.1:p.Arg138Ile