Canonical Allele Identifier: CA515947837

Gene: ARX

Linked Data

• ClinVar Variation Id: 540222
• ClinVar RCV Id: RCV000650180 ; RCV000842158
• dbSNP Id: rs1006404746
• gnomAD v4: X-25013332-G-C
• MyVariant Identifiers: chrX:g.25031449G>C (hg19) ; chrX:g.25013332G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013332G>C , CM000685.2:g.25013332G>C	GRCh38
NC_000023.10:g.25031449G>C , CM000685.1:g.25031449G>C	GRCh37
NC_000023.9:g.24941370G>C	NCBI36
NG_008281.1:g.7617C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.663C>G MANE Select	ENSP00000368332.4:p.Thr221=
ENST00000379044.4:c.663C>G	ENSP00000368332.4:p.Thr221=
NM_139058.2:c.663C>G	NP_620689.1:p.Thr221=
NM_139058.3:c.663C>G MANE Select	NP_620689.1:p.Thr221=