Canonical Allele Identifier: CA412610699
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 870181
ClinVar RCV Id: RCV001089719
dbSNP Id: rs2048669628
MyVariant Identifiers: chrX:g.25022887G>C (hg19) chrX:g.25004770G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004770G>C , CM000685.2:g.25004770G>C GRCh38
NC_000023.10:g.25022887G>C , CM000685.1:g.25022887G>C GRCh37
NC_000023.9:g.24932808G>C NCBI36
NG_008281.1:g.16179C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1589C>G MANE Select ENSP00000368332.4:p.Ser530Cys
ENST00000379044.4:c.1589C>G ENSP00000368332.4:p.Ser530Cys
NM_139058.2:c.1589C>G NP_620689.1:p.Ser530Cys
NM_139058.3:c.1589C>G MANE Select NP_620689.1:p.Ser530Cys
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