Canonical Allele Identifier: CA10373838
Gene: ARX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.25010275G>A
GRCh37 chrX:g.25028392G>A
gnomAD v2:
X:25028392 G / A
gnomAD v3:
X:25010275 G / A
gnomAD v4:
chrX-25010275-G-A
Joint Max Group AF 0.00000607 (AFR)
Exomes Max Group AF 4e-7 (NFE)
ClinVar RCV:
RCV002066161
ClinVar Variation:
759318
dbSNP:
771822246
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010275G>A , CM000685.2:g.25010275G>A GRCh38
NC_000023.10:g.25028392G>A , CM000685.1:g.25028392G>A GRCh37
NC_000023.9:g.24938313G>A NCBI36
NG_008281.1:g.10674C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1104C>T MANE Select ENSP00000368332.4:p.Thr368=
ENST00000379044.4:c.1104C>T ENSP00000368332.4:p.Thr368=
NM_139058.2:c.1104C>T NP_620689.1:p.Thr368=
NM_139058.3:c.1104C>T MANE Select NP_620689.1:p.Thr368=
Search 100 bp 5'
Search 100 bp 3'