Canonical Allele Identifier: CA412612783
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1253791
ClinVar RCV Id: RCV001663348
dbSNP Id: rs2147323982
MyVariant Identifiers: chrX:g.25031489G>A (hg19) chrX:g.25013372G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013372G>A , CM000685.2:g.25013372G>A GRCh38
NC_000023.10:g.25031489G>A , CM000685.1:g.25031489G>A GRCh37
NC_000023.9:g.24941410G>A NCBI36
NG_008281.1:g.7577C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.623C>T MANE Select ENSP00000368332.4:p.Ala208Val
ENST00000379044.4:c.623C>T ENSP00000368332.4:p.Ala208Val
NM_139058.2:c.623C>T NP_620689.1:p.Ala208Val
NM_139058.3:c.623C>T MANE Select NP_620689.1:p.Ala208Val
Search 100 bp 5'
Search 100 bp 3'