Canonical Allele Identifier: CA412612963
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1009217
ClinVar RCV Id: RCV001306673
dbSNP Id: rs2048711615
MyVariant Identifiers: chrX:g.25031577C>G (hg19) chrX:g.25013460C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013460C>G , CM000685.2:g.25013460C>G GRCh38
NC_000023.10:g.25031577C>G , CM000685.1:g.25031577C>G GRCh37
NC_000023.9:g.24941498C>G NCBI36
NG_008281.1:g.7489G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.535G>C MANE Select ENSP00000368332.4:p.Gly179Arg
ENST00000379044.4:c.535G>C ENSP00000368332.4:p.Gly179Arg
NM_139058.2:c.535G>C NP_620689.1:p.Gly179Arg
NM_139058.3:c.535G>C MANE Select NP_620689.1:p.Gly179Arg
Search 100 bp 5'
Search 100 bp 3'