Canonical Allele Identifier: CA10373919
Gene: ARX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.25015704C>G
GRCh37 chrX:g.25033821C>G
Revel Score:
ENST00000379044 (MANE Select) 0.419
gnomAD v2:
X:25033821 C / G
gnomAD v4:
chrX-25015704-C-G
Joint Max Group AF 0.00000987 (EAS)
Exomes Max Group AF 0.00001107 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015704C>G , CM000685.2:g.25015704C>G GRCh38
NC_000023.10:g.25033821C>G , CM000685.1:g.25033821C>G GRCh37
NC_000023.9:g.24943742C>G NCBI36
NG_008281.1:g.5245G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.34G>C MANE Select ENSP00000368332.4:p.Glu12Gln
ENST00000636609.1:n.36-59G>C
ENST00000637394.1:n.68-59G>C
ENST00000379044.4:c.34G>C ENSP00000368332.4:p.Glu12Gln
NM_139058.2:c.34G>C NP_620689.1:p.Glu12Gln
NM_139058.3:c.34G>C MANE Select NP_620689.1:p.Glu12Gln
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