Canonical Allele Identifier: CA412610663
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 869403
ClinVar RCV Id: RCV001089499 RCV002505668
dbSNP Id: rs2048669411
MyVariant Identifiers: chrX:g.25022869C>G (hg19) chrX:g.25004752C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004752C>G , CM000685.2:g.25004752C>G GRCh38
NC_000023.10:g.25022869C>G , CM000685.1:g.25022869C>G GRCh37
NC_000023.9:g.24932790C>G NCBI36
NG_008281.1:g.16197G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1607G>C MANE Select ENSP00000368332.4:p.Arg536Thr
ENST00000379044.4:c.1607G>C ENSP00000368332.4:p.Arg536Thr
NM_139058.2:c.1607G>C NP_620689.1:p.Arg536Thr
NM_139058.3:c.1607G>C MANE Select NP_620689.1:p.Arg536Thr
Search 100 bp 5'
Search 100 bp 3'