Canonical Allele Identifier: CA515748099

Gene: ARX

Linked Data

• ClinVar Variation Id: 511201
• ClinVar RCV Id: RCV000607392 ; RCV002529652
• dbSNP Id: rs1556046751
• gnomAD v4: X-25004826-T-C
• MyVariant Identifiers: chrX:g.25022943T>C (hg19) ; chrX:g.25004826T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25004826T>C , CM000685.2:g.25004826T>C	GRCh38
NC_000023.10:g.25022943T>C , CM000685.1:g.25022943T>C	GRCh37
NC_000023.9:g.24932864T>C	NCBI36
NG_008281.1:g.16123A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1533A>G MANE Select	ENSP00000368332.4:p.Ala511=
ENST00000379044.4:c.1533A>G	ENSP00000368332.4:p.Ala511=
NM_139058.2:c.1533A>G	NP_620689.1:p.Ala511=
NM_139058.3:c.1533A>G MANE Select	NP_620689.1:p.Ala511=