Canonical Allele Identifier: CA412611899
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 864558
ClinVar RCV Id: RCV001071777
dbSNP Id: rs1556054888
MyVariant Identifiers: chrX:g.25031073A>G (hg19) chrX:g.25012956A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012956A>G , CM000685.2:g.25012956A>G GRCh38
NC_000023.10:g.25031073A>G , CM000685.1:g.25031073A>G GRCh37
NC_000023.9:g.24940994A>G NCBI36
NG_008281.1:g.7993T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1039T>C MANE Select ENSP00000368332.4:p.Phe347Leu
ENST00000379044.4:c.1039T>C ENSP00000368332.4:p.Phe347Leu
NM_139058.2:c.1039T>C NP_620689.1:p.Phe347Leu
NM_139058.3:c.1039T>C MANE Select NP_620689.1:p.Phe347Leu
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Search 100 bp 3'