Canonical Allele Identifier: CA515947250
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1108009
ClinVar RCV Id: RCV001433352
dbSNP Id: rs2147320537
gnomAD v4: X-25007314-G-A
MyVariant Identifiers: chrX:g.25025431G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007314G>A , CM000685.2:g.25007314G>A GRCh38
NC_000023.10:g.25025431G>A , CM000685.1:g.25025431G>A GRCh37
NC_000023.9:g.24935352G>A NCBI36
NG_008281.1:g.13635C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1245C>T MANE Select ENSP00000368332.4:p.Asp415=
ENST00000379044.4:c.1245C>T ENSP00000368332.4:p.Asp415=
NM_139058.2:c.1245C>T NP_620689.1:p.Asp415=
NM_139058.3:c.1245C>T MANE Select NP_620689.1:p.Asp415=
Search 100 bp 5'
Search 100 bp 3'