Canonical Allele Identifier: CA412611722
Gene: ARX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.25010267C>T
GRCh37 chrX:g.25028384C>T
Revel Score:
ENST00000379044 (MANE Select) 0.858
ClinVar RCV:
RCV001825119
ClinVar Variation:
1339731
dbSNP:
2147322042
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010267C>T , CM000685.2:g.25010267C>T GRCh38
NC_000023.10:g.25028384C>T , CM000685.1:g.25028384C>T GRCh37
NC_000023.9:g.24938305C>T NCBI36
NG_008281.1:g.10682G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1112G>A MANE Select ENSP00000368332.4:p.Arg371Gln
ENST00000379044.4:c.1112G>A ENSP00000368332.4:p.Arg371Gln
NM_139058.2:c.1112G>A NP_620689.1:p.Arg371Gln
NM_139058.3:c.1112G>A MANE Select NP_620689.1:p.Arg371Gln
Search 100 bp 5'
Search 100 bp 3'