Canonical Allele Identifier: CA16608404
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 393263
ClinVar RCV Id: RCV000426593
dbSNP Id: rs1057524859
MyVariant Identifiers: chrX:g.25022879C>T (hg19) chrX:g.25004762C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004762C>T , CM000685.2:g.25004762C>T GRCh38
NC_000023.10:g.25022879C>T , CM000685.1:g.25022879C>T GRCh37
NC_000023.9:g.24932800C>T NCBI36
NG_008281.1:g.16187G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1597G>A MANE Select ENSP00000368332.4:p.Ala533Thr
ENST00000379044.4:c.1597G>A ENSP00000368332.4:p.Ala533Thr
NM_139058.2:c.1597G>A NP_620689.1:p.Ala533Thr
NM_139058.3:c.1597G>A MANE Select NP_620689.1:p.Ala533Thr
Search 100 bp 5'
Search 100 bp 3'