Canonical Allele Identifier: CA10373900

Gene: ARX

Linked Data

• ClinVar Variation Id: 288382
• ClinVar RCV Id: RCV000353204 ; RCV001089020 ; RCV002328787
• dbSNP Id: rs745705522
• ExAC: X:25031665 C / G
• gnomAD v2: X-25031665-C-G
• gnomAD v3: X-25013548-C-G
• gnomAD v4: X-25013548-C-G
• MyVariant Identifiers: chrX:g.25031665C>G (hg19) ; chrX:g.25013548C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013548C>G , CM000685.2:g.25013548C>G	GRCh38
NC_000023.10:g.25031665C>G , CM000685.1:g.25031665C>G	GRCh37
NC_000023.9:g.24941586C>G	NCBI36
NG_008281.1:g.7401G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.447G>C MANE Select	ENSP00000368332.4:p.Ala149=
ENST00000379044.4:c.447G>C	ENSP00000368332.4:p.Ala149=
NM_139058.2:c.447G>C	NP_620689.1:p.Ala149=
NM_139058.3:c.447G>C MANE Select	NP_620689.1:p.Ala149=