Canonical Allele Identifier: CA16608826
Gene: ARX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.25013363G>A
GRCh37 chrX:g.25031480G>A
Revel Score:
ENST00000379044 (MANE Select) 0.134
gnomAD v4:
chrX-25013363-G-A
Joint Max Group AF 0.00003515 (NFE)
Exomes Max Group AF 0.00003743 (NFE)
ClinVar RCV:
RCV000417614
ClinVar Variation:
386397
dbSNP:
1057522488
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013363G>A , CM000685.2:g.25013363G>A GRCh38
NC_000023.10:g.25031480G>A , CM000685.1:g.25031480G>A GRCh37
NC_000023.9:g.24941401G>A NCBI36
NG_008281.1:g.7586C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.632C>T MANE Select ENSP00000368332.4:p.Pro211Leu
ENST00000379044.4:c.632C>T ENSP00000368332.4:p.Pro211Leu
NM_139058.2:c.632C>T NP_620689.1:p.Pro211Leu
NM_139058.3:c.632C>T MANE Select NP_620689.1:p.Pro211Leu
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