Canonical Allele Identifier: CA412610835
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 976056
ClinVar RCV Id: RCV001253235
dbSNP Id: rs2048670414
gnomAD v4: X-25004837-C-T
MyVariant Identifiers: chrX:g.25022954C>T (hg19) chrX:g.25004837C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004837C>T , CM000685.2:g.25004837C>T GRCh38
NC_000023.10:g.25022954C>T , CM000685.1:g.25022954C>T GRCh37
NC_000023.9:g.24932875C>T NCBI36
NG_008281.1:g.16112G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1522G>A MANE Select ENSP00000368332.4:p.Val508Met
ENST00000379044.4:c.1522G>A ENSP00000368332.4:p.Val508Met
NM_139058.2:c.1522G>A NP_620689.1:p.Val508Met
NM_139058.3:c.1522G>A MANE Select NP_620689.1:p.Val508Met
Search 100 bp 5'
Search 100 bp 3'