Canonical Allele Identifier: CA412613330

Gene: ARX

Linked Data

• ClinVar Variation Id: 1366988
• ClinVar RCV Id: RCV001932382 ; RCV002074429
• dbSNP Id: rs1335963054
• gnomAD v4: X-25013630-C-T
• MyVariant Identifiers: chrX:g.25031747C>T (hg19) ; chrX:g.25013630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013630C>T , CM000685.2:g.25013630C>T	GRCh38
NC_000023.10:g.25031747C>T , CM000685.1:g.25031747C>T	GRCh37
NC_000023.9:g.24941668C>T	NCBI36
NG_008281.1:g.7319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.365G>A MANE Select	ENSP00000368332.4:p.Arg122His
ENST00000379044.4:c.365G>A	ENSP00000368332.4:p.Arg122His
NM_139058.2:c.365G>A	NP_620689.1:p.Arg122His
NM_139058.3:c.365G>A MANE Select	NP_620689.1:p.Arg122His