Canonical Allele Identifier: CA412611509
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 929432
ClinVar RCV Id: RCV001194621
dbSNP Id: rs2048682884
gnomAD v4: X-25007355-C-T
MyVariant Identifiers: chrX:g.25025472C>T (hg19) chrX:g.25007355C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007355C>T , CM000685.2:g.25007355C>T GRCh38
NC_000023.10:g.25025472C>T , CM000685.1:g.25025472C>T GRCh37
NC_000023.9:g.24935393C>T NCBI36
NG_008281.1:g.13594G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1204G>A MANE Select ENSP00000368332.4:p.Gly402Arg
ENST00000379044.4:c.1204G>A ENSP00000368332.4:p.Gly402Arg
NM_139058.2:c.1204G>A NP_620689.1:p.Gly402Arg
NM_139058.3:c.1204G>A MANE Select NP_620689.1:p.Gly402Arg
Search 100 bp 5'
Search 100 bp 3'