Canonical Allele Identifier: CA515948081
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2952512
ClinVar RCV Id: RCV003815663
MyVariant Identifiers: chrX:g.25031800C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013683C>G , CM000685.2:g.25013683C>G GRCh38
NC_000023.10:g.25031800C>G , CM000685.1:g.25031800C>G GRCh37
NC_000023.9:g.24941721C>G NCBI36
NG_008281.1:g.7266G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.312G>C MANE Select ENSP00000368332.4:p.Ala104=
ENST00000379044.4:c.312G>C ENSP00000368332.4:p.Ala104=
NM_139058.2:c.312G>C NP_620689.1:p.Ala104=
NM_139058.3:c.312G>C MANE Select NP_620689.1:p.Ala104=
Search 100 bp 5'
Search 100 bp 3'