Canonical Allele Identifier: CA10373902
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1542092
ClinVar RCV Id: RCV002157575
dbSNP Id: rs377487471
ExAC: X:25033645 G / C
gnomAD v2: X-25033645-G-C
gnomAD v3: X-25015528-G-C
gnomAD v4: X-25015528-G-C
MyVariant Identifiers: chrX:g.25033645G>C (hg19) chrX:g.25015528G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015528G>C , CM000685.2:g.25015528G>C GRCh38
NC_000023.10:g.25033645G>C , CM000685.1:g.25033645G>C GRCh37
NC_000023.9:g.24943566G>C NCBI36
NG_008281.1:g.5421C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.196+14C>G MANE Select ENSP00000368332.4:n.196+14C>G
ENST00000379044.4:c.196+14C>G ENSP00000368332.4:n.196+14C>G
NM_139058.2:c.196+14C>G NP_620689.1:n.196+14C>G
NM_139058.3:c.196+14C>G MANE Select NP_620689.1:n.196+14C>G
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