Canonical Allele Identifier: CA412610921
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 810538
ClinVar RCV Id: RCV000999357
dbSNP Id: rs1601945709
MyVariant Identifiers: chrX:g.25022997G>C (hg19) chrX:g.25004880G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004880G>C , CM000685.2:g.25004880G>C GRCh38
NC_000023.10:g.25022997G>C , CM000685.1:g.25022997G>C GRCh37
NC_000023.9:g.24932918G>C NCBI36
NG_008281.1:g.16069C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1479C>G MANE Select ENSP00000368332.4:p.Ser493Arg
ENST00000636885.1:n.67C>G
ENST00000379044.4:c.1479C>G ENSP00000368332.4:p.Ser493Arg
NM_139058.2:c.1479C>G NP_620689.1:p.Ser493Arg
NM_139058.3:c.1479C>G MANE Select NP_620689.1:p.Ser493Arg
Search 100 bp 5'
Search 100 bp 3'