Canonical Allele Identifier: CA412611402
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 915390
ClinVar RCV Id: RCV001170000
dbSNP Id: rs2048682725
MyVariant Identifiers: chrX:g.25025423G>C (hg19) chrX:g.25007306G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007306G>C , CM000685.2:g.25007306G>C GRCh38
NC_000023.10:g.25025423G>C , CM000685.1:g.25025423G>C GRCh37
NC_000023.9:g.24935344G>C NCBI36
NG_008281.1:g.13643C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1253C>G MANE Select ENSP00000368332.4:p.Pro418Arg
ENST00000379044.4:c.1253C>G ENSP00000368332.4:p.Pro418Arg
NM_139058.2:c.1253C>G NP_620689.1:p.Pro418Arg
NM_139058.3:c.1253C>G MANE Select NP_620689.1:p.Pro418Arg
Search 100 bp 5'
Search 100 bp 3'