Canonical Allele Identifier: CA412612818
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2534162
ClinVar RCV Id: RCV003253768
MyVariant Identifiers: chrX:g.25031506C>G (hg19) chrX:g.25013389C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013389C>G , CM000685.2:g.25013389C>G GRCh38
NC_000023.10:g.25031506C>G , CM000685.1:g.25031506C>G GRCh37
NC_000023.9:g.24941427C>G NCBI36
NG_008281.1:g.7560G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.606G>C MANE Select ENSP00000368332.4:p.Glu202Asp
ENST00000379044.4:c.606G>C ENSP00000368332.4:p.Glu202Asp
NM_139058.2:c.606G>C NP_620689.1:p.Glu202Asp
NM_139058.3:c.606G>C MANE Select NP_620689.1:p.Glu202Asp
Search 100 bp 5'
Search 100 bp 3'