Canonical Allele Identifier: CA362971552

Gene: KIAA0319

Linked Data

• gnomAD v4: 6-24596192-C-A
• MyVariant Identifiers: chr6:g.24596420C>A (hg19) ; chr6:g.24596192C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24596192C>A , CM000668.2:g.24596192C>A	GRCh38
NC_000006.11:g.24596420C>A , CM000668.1:g.24596420C>A	GRCh37
NC_000006.10:g.24704399C>A	NCBI36
NG_016206.1:g.54964G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378214.8:c.482G>T MANE Select	ENSP00000367459.3:p.Arg161Leu
ENST00000378214.7:c.482G>T	ENSP00000367459.3:p.Arg161Leu
ENST00000430948.6:c.347G>T	ENSP00000401086.2:p.Arg116Leu
ENST00000535378.5:c.455G>T	ENSP00000442403.1:p.Arg152Leu
ENST00000537886.5:c.482G>T	ENSP00000439700.1:p.Arg161Leu
ENST00000543707.2:c.482G>T	ENSP00000437656.1:p.Arg161Leu
NM_001168374.1:c.455G>T	NP_001161846.1:p.Arg152Leu
NM_001168375.1:c.482G>T	NP_001161847.1:p.Arg161Leu
NM_001168376.1:c.347G>T	NP_001161848.1:p.Arg116Leu
NM_001168377.1:c.482G>T	NP_001161849.1:p.Arg161Leu
NM_014809.3:c.482G>T	NP_055624.2:p.Arg161Leu
XM_006715288.2:c.26G>T	XP_006715351.1:p.Arg9Leu
XM_011515022.1:c.500G>T	XP_011513324.1:p.Arg167Leu
XM_011515023.1:c.500G>T	XP_011513325.1:p.Arg167Leu
XM_011515024.1:c.500G>T	XP_011513326.1:p.Arg167Leu
XM_011515025.1:c.482G>T	XP_011513327.1:p.Arg161Leu
XM_011515026.1:c.347G>T	XP_011513328.1:p.Arg116Leu
NM_001350403.1:c.482G>T	NP_001337332.1:p.Arg161Leu
NM_001350404.1:c.464G>T	NP_001337333.1:p.Arg155Leu
NM_001350405.1:c.482G>T	NP_001337334.1:p.Arg161Leu
NM_001350406.1:c.347G>T	NP_001337335.1:p.Arg116Leu
NM_001350407.1:c.482G>T	NP_001337336.1:p.Arg161Leu
NM_001350408.1:c.482G>T	NP_001337337.1:p.Arg161Leu
NM_001350409.1:c.26G>T	NP_001337338.1:p.Arg9Leu
NM_001350410.1:c.26G>T	NP_001337339.1:p.Arg9Leu
XM_011515026.3:c.347G>T	XP_011513328.1:p.Arg116Leu
XM_017011541.1:c.455G>T	XP_016867030.1:p.Arg152Leu
XM_017011542.2:c.482G>T	XP_016867031.1:p.Arg161Leu
XM_017011544.1:c.482G>T	XP_016867033.1:p.Arg161Leu
XM_017011546.2:c.482G>T	XP_016867035.1:p.Arg161Leu
XM_017011547.1:c.482G>T	XP_016867036.1:p.Arg161Leu
XM_017011550.1:c.482G>T	XP_016867039.1:p.Arg161Leu
XM_017011551.1:c.482G>T	XP_016867040.1:p.Arg161Leu
XR_001743779.1:n.725G>T
XR_001743780.1:n.725G>T
NM_014809.4:c.482G>T MANE Select	NP_055624.2:p.Arg161Leu
NM_001168375.2:c.482G>T	NP_001161847.1:p.Arg161Leu
NM_001350403.2:c.482G>T	NP_001337332.1:p.Arg161Leu
NM_001350404.2:c.464G>T	NP_001337333.1:p.Arg155Leu
NM_001350405.2:c.482G>T	NP_001337334.1:p.Arg161Leu
NM_001350406.2:c.347G>T	NP_001337335.1:p.Arg116Leu
NM_001350407.2:c.482G>T	NP_001337336.1:p.Arg161Leu
NM_001350408.2:c.482G>T	NP_001337337.1:p.Arg161Leu
NM_001350409.2:c.26G>T	NP_001337338.1:p.Arg9Leu
NM_001350410.2:c.26G>T	NP_001337339.1:p.Arg9Leu
NM_001168374.2:c.455G>T	NP_001161846.1:p.Arg152Leu
NM_001168376.2:c.347G>T	NP_001161848.1:p.Arg116Leu
NM_001168377.2:c.482G>T	NP_001161849.1:p.Arg161Leu