Canonical Allele Identifier: CA12400145

Gene: KIAA0319

Linked Data

• dbSNP Id: rs16889440
• gnomAD v2: 6-24544967-C-T
• gnomAD v3: 6-24544739-C-T
• gnomAD v4: 6-24544739-C-T
• MyVariant Identifiers: chr6:g.24544967C>T (hg19) ; chr6:g.24544739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24544739C>T , CM000668.2:g.24544739C>T	GRCh38
NC_000006.11:g.24544967C>T , CM000668.1:g.24544967C>T	GRCh37
NC_000006.10:g.24652946C>T	NCBI36
NG_016206.1:g.106417G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378214.8:c.*2426G>A MANE Select	ENSP00000367459.3:n.*2426G>A
ENST00000378214.7:c.*2426G>A	ENSP00000367459.3:n.*2426G>A
ENST00000430948.6:c.*2426G>A	ENSP00000401086.2:n.*2426G>A
ENST00000535378.5:c.*2426G>A	ENSP00000442403.1:n.*2426G>A
ENST00000537886.5:c.*2426G>A	ENSP00000439700.1:n.*2426G>A
ENST00000616673.4:c.*2426G>A	ENSP00000483665.1:n.*2426G>A
NM_001168374.1:c.*2426G>A	NP_001161846.1:n.*2426G>A
NM_001168375.1:c.*2426G>A	NP_001161847.1:n.*2426G>A
NM_001168376.1:c.*2426G>A	NP_001161848.1:n.*2426G>A
NM_001168377.1:c.*2426G>A	NP_001161849.1:n.*2426G>A
NM_001252328.1:c.*2426G>A	NP_001239257.1:n.*2426G>A
NM_014809.3:c.*2426G>A	NP_055624.2:n.*2426G>A
XM_006715288.2:c.*2426G>A	XP_006715351.1:n.*2426G>A
XM_011515022.1:c.*2426G>A	XP_011513324.1:n.*2426G>A
XM_011515023.1:c.*2426G>A	XP_011513325.1:n.*2426G>A
XM_011515024.1:c.*2426G>A	XP_011513326.1:n.*2426G>A
XM_011515025.1:c.*2426G>A	XP_011513327.1:n.*2426G>A
XM_011515026.1:c.*2426G>A	XP_011513328.1:n.*2426G>A
XM_011515027.1:c.*2426G>A	XP_011513329.1:n.*2426G>A
NM_001350403.1:c.*2426G>A	NP_001337332.1:n.*2426G>A
NM_001350404.1:c.*2426G>A	NP_001337333.1:n.*2426G>A
NM_001350405.1:c.*2426G>A	NP_001337334.1:n.*2426G>A
NM_001350406.1:c.*2426G>A	NP_001337335.1:n.*2426G>A
NM_001350407.1:c.*2617G>A	NP_001337336.1:n.*2617G>A
NM_001350408.1:c.*2617G>A	NP_001337337.1:n.*2617G>A
NM_001350409.1:c.*2426G>A	NP_001337338.1:n.*2426G>A
NM_001350410.1:c.*2426G>A	NP_001337339.1:n.*2426G>A
XM_011515026.3:c.*2426G>A	XP_011513328.1:n.*2426G>A
XM_017011541.1:c.*2426G>A	XP_016867030.1:n.*2426G>A
XM_017011542.2:c.3041-3394G>A	XP_016867031.1:n.3041-3394G>A
XM_017011544.1:c.*2426G>A	XP_016867033.1:n.*2426G>A
XM_017011546.2:c.2858-3394G>A	XP_016867035.1:n.2858-3394G>A
XM_017011547.1:c.*2617G>A	XP_016867036.1:n.*2617G>A
XM_017011550.1:c.*13-3394G>A	XP_016867039.1:n.*13-3394G>A
XM_017011551.1:c.*2617G>A	XP_016867040.1:n.*2617G>A
XR_001743779.1:n.5878G>A
XR_001743780.1:n.5787G>A
NM_014809.4:c.*2426G>A MANE Select	NP_055624.2:n.*2426G>A
NM_001168375.2:c.*2426G>A	NP_001161847.1:n.*2426G>A
NM_001350403.2:c.*2426G>A	NP_001337332.1:n.*2426G>A
NM_001350404.2:c.*2426G>A	NP_001337333.1:n.*2426G>A
NM_001350405.2:c.*2426G>A	NP_001337334.1:n.*2426G>A
NM_001350406.2:c.*2426G>A	NP_001337335.1:n.*2426G>A
NM_001350407.2:c.*2617G>A	NP_001337336.1:n.*2617G>A
NM_001350408.2:c.*2617G>A	NP_001337337.1:n.*2617G>A
NM_001350409.2:c.*2426G>A	NP_001337338.1:n.*2426G>A
NM_001350410.2:c.*2426G>A	NP_001337339.1:n.*2426G>A
NM_001168374.2:c.*2426G>A	NP_001161846.1:n.*2426G>A
NM_001168376.2:c.*2426G>A	NP_001161848.1:n.*2426G>A
NM_001168377.2:c.*2426G>A	NP_001161849.1:n.*2426G>A
NM_001252328.2:c.*2426G>A	NP_001239257.1:n.*2426G>A