Canonical Allele Identifier: CA874145116
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1345919211
MyVariant Identifiers: chrX:g.25028309C>T (hg19) chrX:g.25010192C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010192C>T , CM000685.2:g.25010192C>T GRCh38
NC_000023.10:g.25028309C>T , CM000685.1:g.25028309C>T GRCh37
NC_000023.9:g.24938230C>T NCBI36
NG_008281.1:g.10757G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+68G>A MANE Select ENSP00000368332.4:n.1119+68G>A
ENST00000379044.4:c.1119+68G>A ENSP00000368332.4:n.1119+68G>A
NM_139058.2:c.1119+68G>A NP_620689.1:n.1119+68G>A
NM_139058.3:c.1119+68G>A MANE Select NP_620689.1:n.1119+68G>A
Search 100 bp 5'
Search 100 bp 3'