Canonical Allele Identifier: CA515947355

Gene: ARX

Linked Data

• ClinVar Variation Id: 1299177
• ClinVar RCV Id: RCV001727507 ; RCV003771881
• dbSNP Id: rs1359275622
• gnomAD v2: X-25031239-G-C
• gnomAD v4: X-25013122-G-C
• MyVariant Identifiers: chrX:g.25031239G>C (hg19) ; chrX:g.25013122G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013122G>C , CM000685.2:g.25013122G>C	GRCh38
NC_000023.10:g.25031239G>C , CM000685.1:g.25031239G>C	GRCh37
NC_000023.9:g.24941160G>C	NCBI36
NG_008281.1:g.7827C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.873C>G MANE Select	ENSP00000368332.4:p.Pro291=
ENST00000379044.4:c.873C>G	ENSP00000368332.4:p.Pro291=
NM_139058.2:c.873C>G	NP_620689.1:p.Pro291=
NM_139058.3:c.873C>G MANE Select	NP_620689.1:p.Pro291=