Canonical Allele Identifier: CA247612

Gene: NAA10 ARHGAP4

Linked Data

• ClinVar Variation Id: 198786
• ClinVar RCV Id: RCV000239326 ; RCV000724367
• dbSNP Id: rs797044789
• gnomAD v4: X-153930216-C-T
• MyVariant Identifiers: chrX:g.153195669C>T (hg19) ; chrX:g.153930216C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153930216C>T , CM000685.2:g.153930216C>T	GRCh38
NC_000023.10:g.153195669C>T , CM000685.1:g.153195669C>T	GRCh37
NC_000023.9:g.152848863C>T	NCBI36
NG_013220.1:g.1046G>A
NG_031987.1:g.9939G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477750.6:n.2078G>A (NAA10)
ENST00000700299.1:n.1731G>A (NAA10)
ENST00000464845.6:c.479G>A (NAA10) MANE Select	ENSP00000417763.1:p.Arg160Gln
ENST00000370009.5:c.434G>A (NAA10)	ENSP00000359026.1:p.Arg145Gln
ENST00000370011.7:c.416G>A (NAA10)	ENSP00000359028.3:p.Arg139Gln
ENST00000370015.8:c.*53G>A (NAA10)	ENSP00000359032.4:n.*53G>A
ENST00000393712.7:c.*4G>A (NAA10)	ENSP00000377315.3:n.*4G>A
ENST00000460996.5:n.768G>A (NAA10)
ENST00000464845.5:c.479G>A (NAA10)	ENSP00000417763.1:p.Arg160Gln
ENST00000466877.5:n.790G>A (NAA10)
ENST00000482485.1:n.686G>A (NAA10)
ENST00000484950.5:n.698G>A (NAA10)
ENST00000494813.5:n.481+1855G>A (ARHGAP4)
NM_001256119.1:c.434G>A (NAA10)	NP_001243048.1:p.Arg145Gln
NM_001256120.1:c.461G>A (NAA10)	NP_001243049.1:p.Arg154Gln
NM_003491.3:c.479G>A (NAA10)	NP_003482.1:p.Arg160Gln
NM_003491.4:c.479G>A (NAA10) MANE Select	NP_003482.1:p.Arg160Gln
NM_001256119.2:c.434G>A (NAA10)	NP_001243048.1:p.Arg145Gln
NM_001256120.2:c.461G>A (NAA10)	NP_001243049.1:p.Arg154Gln