Canonical Allele Identifier: CA412612297

Gene: ARX

Linked Data

• ClinVar Variation Id: 2443983
• ClinVar RCV Id: RCV003327593
• gnomAD v4: X-25013136-C-T
• MyVariant Identifiers: chrX:g.25031253C>T (hg19) ; chrX:g.25013136C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013136C>T , CM000685.2:g.25013136C>T	GRCh38
NC_000023.10:g.25031253C>T , CM000685.1:g.25031253C>T	GRCh37
NC_000023.9:g.24941174C>T	NCBI36
NG_008281.1:g.7813G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.859G>A MANE Select	ENSP00000368332.4:p.Gly287Arg
ENST00000379044.4:c.859G>A	ENSP00000368332.4:p.Gly287Arg
NM_139058.2:c.859G>A	NP_620689.1:p.Gly287Arg
NM_139058.3:c.859G>A MANE Select	NP_620689.1:p.Gly287Arg