Canonical Allele Identifier: CA10604061
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 282072
ClinVar RCV Id: RCV000371269
dbSNP Id: rs886042304
MyVariant Identifiers: chrX:g.25025355A>C (hg19) chrX:g.25007238A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007238A>C , CM000685.2:g.25007238A>C GRCh38
NC_000023.10:g.25025355A>C , CM000685.1:g.25025355A>C GRCh37
NC_000023.9:g.24935276A>C NCBI36
NG_008281.1:g.13711T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1321T>G MANE Select ENSP00000368332.4:p.Phe441Val
ENST00000379044.4:c.1321T>G ENSP00000368332.4:p.Phe441Val
NM_139058.2:c.1321T>G NP_620689.1:p.Phe441Val
NM_139058.3:c.1321T>G MANE Select NP_620689.1:p.Phe441Val
Search 100 bp 5'
Search 100 bp 3'