Canonical Allele Identifier: CA874149262
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1944866
ClinVar RCV Id: RCV002663264
dbSNP Id: rs797045293
gnomAD v3: X-25015536-C-T
gnomAD v4: X-25015536-C-T
MyVariant Identifiers: chrX:g.25033653C>T (hg19) chrX:g.25015536C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015536C>T , CM000685.2:g.25015536C>T GRCh38
NC_000023.10:g.25033653C>T , CM000685.1:g.25033653C>T GRCh37
NC_000023.9:g.24943574C>T NCBI36
NG_008281.1:g.5413G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.196+6G>A MANE Select ENSP00000368332.4:n.196+6G>A
ENST00000379044.4:c.196+6G>A ENSP00000368332.4:n.196+6G>A
NM_139058.2:c.196+6G>A NP_620689.1:n.196+6G>A
NM_139058.3:c.196+6G>A MANE Select NP_620689.1:n.196+6G>A
Search 100 bp 5'
Search 100 bp 3'