Canonical Allele Identifier: CA412613547

Gene: ARX

Linked Data

• dbSNP Id: rs1318646725
• gnomAD v2: X-25031855-C-T
• gnomAD v4: X-25013738-C-T
• MyVariant Identifiers: chrX:g.25031855C>T (hg19) ; chrX:g.25013738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013738C>T , CM000685.2:g.25013738C>T	GRCh38
NC_000023.10:g.25031855C>T , CM000685.1:g.25031855C>T	GRCh37
NC_000023.9:g.24941776C>T	NCBI36
NG_008281.1:g.7211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.257G>A MANE Select	ENSP00000368332.4:p.Arg86Gln
ENST00000379044.4:c.257G>A	ENSP00000368332.4:p.Arg86Gln
NM_139058.2:c.257G>A	NP_620689.1:p.Arg86Gln
NM_139058.3:c.257G>A MANE Select	NP_620689.1:p.Arg86Gln