Canonical Allele Identifier: CA3657846

Gene: KIAA0319

Linked Data

• dbSNP Id: rs749548042
• ExAC: 6:24596477 G / T
• gnomAD v2: 6-24596477-G-T
• gnomAD v3: 6-24596249-G-T
• gnomAD v4: 6-24596249-G-T
• MyVariant Identifiers: chr6:g.24596477G>T (hg19) ; chr6:g.24596249G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24596249G>T , CM000668.2:g.24596249G>T	GRCh38
NC_000006.11:g.24596477G>T , CM000668.1:g.24596477G>T	GRCh37
NC_000006.10:g.24704456G>T	NCBI36
NG_016206.1:g.54907C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378214.8:c.425C>A MANE Select	ENSP00000367459.3:p.Thr142Asn
ENST00000378214.7:c.425C>A	ENSP00000367459.3:p.Thr142Asn
ENST00000430948.6:c.290C>A	ENSP00000401086.2:p.Thr97Asn
ENST00000535378.5:c.398C>A	ENSP00000442403.1:p.Thr133Asn
ENST00000537886.5:c.425C>A	ENSP00000439700.1:p.Thr142Asn
ENST00000543707.2:c.425C>A	ENSP00000437656.1:p.Thr142Asn
NM_001168374.1:c.398C>A	NP_001161846.1:p.Thr133Asn
NM_001168375.1:c.425C>A	NP_001161847.1:p.Thr142Asn
NM_001168376.1:c.290C>A	NP_001161848.1:p.Thr97Asn
NM_001168377.1:c.425C>A	NP_001161849.1:p.Thr142Asn
NM_014809.3:c.425C>A	NP_055624.2:p.Thr142Asn
XM_006715288.2:c.-23-9C>A	XP_006715351.1:n.-23-9C>A
XM_011515022.1:c.443C>A	XP_011513324.1:p.Thr148Asn
XM_011515023.1:c.443C>A	XP_011513325.1:p.Thr148Asn
XM_011515024.1:c.443C>A	XP_011513326.1:p.Thr148Asn
XM_011515025.1:c.425C>A	XP_011513327.1:p.Thr142Asn
XM_011515026.1:c.290C>A	XP_011513328.1:p.Thr97Asn
NM_001350403.1:c.425C>A	NP_001337332.1:p.Thr142Asn
NM_001350404.1:c.407C>A	NP_001337333.1:p.Thr136Asn
NM_001350405.1:c.425C>A	NP_001337334.1:p.Thr142Asn
NM_001350406.1:c.290C>A	NP_001337335.1:p.Thr97Asn
NM_001350407.1:c.425C>A	NP_001337336.1:p.Thr142Asn
NM_001350408.1:c.425C>A	NP_001337337.1:p.Thr142Asn
NM_001350409.1:c.-23-9C>A	NP_001337338.1:n.-23-9C>A
NM_001350410.1:c.-23-9C>A	NP_001337339.1:n.-23-9C>A
XM_011515026.3:c.290C>A	XP_011513328.1:p.Thr97Asn
XM_017011541.1:c.398C>A	XP_016867030.1:p.Thr133Asn
XM_017011542.2:c.425C>A	XP_016867031.1:p.Thr142Asn
XM_017011544.1:c.425C>A	XP_016867033.1:p.Thr142Asn
XM_017011546.2:c.425C>A	XP_016867035.1:p.Thr142Asn
XM_017011547.1:c.425C>A	XP_016867036.1:p.Thr142Asn
XM_017011550.1:c.425C>A	XP_016867039.1:p.Thr142Asn
XM_017011551.1:c.425C>A	XP_016867040.1:p.Thr142Asn
XR_001743779.1:n.668C>A
XR_001743780.1:n.668C>A
NM_014809.4:c.425C>A MANE Select	NP_055624.2:p.Thr142Asn
NM_001168375.2:c.425C>A	NP_001161847.1:p.Thr142Asn
NM_001350403.2:c.425C>A	NP_001337332.1:p.Thr142Asn
NM_001350404.2:c.407C>A	NP_001337333.1:p.Thr136Asn
NM_001350405.2:c.425C>A	NP_001337334.1:p.Thr142Asn
NM_001350406.2:c.290C>A	NP_001337335.1:p.Thr97Asn
NM_001350407.2:c.425C>A	NP_001337336.1:p.Thr142Asn
NM_001350408.2:c.425C>A	NP_001337337.1:p.Thr142Asn
NM_001350409.2:c.-23-9C>A	NP_001337338.1:n.-23-9C>A
NM_001350410.2:c.-23-9C>A	NP_001337339.1:n.-23-9C>A
NM_001168374.2:c.398C>A	NP_001161846.1:p.Thr133Asn
NM_001168376.2:c.290C>A	NP_001161848.1:p.Thr97Asn
NM_001168377.2:c.425C>A	NP_001161849.1:p.Thr142Asn