Canonical Allele Identifier: CA412613128
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 872757
ClinVar RCV Id: RCV001093395
dbSNP Id: rs2048711878
gnomAD v4: X-25013528-C-T
MyVariant Identifiers: chrX:g.25031645C>T (hg19) chrX:g.25013528C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013528C>T , CM000685.2:g.25013528C>T GRCh38
NC_000023.10:g.25031645C>T , CM000685.1:g.25031645C>T GRCh37
NC_000023.9:g.24941566C>T NCBI36
NG_008281.1:g.7421G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.467G>A MANE Select ENSP00000368332.4:p.Trp156Ter
ENST00000379044.4:c.467G>A ENSP00000368332.4:p.Trp156Ter
NM_139058.2:c.467G>A NP_620689.1:p.Trp156Ter
NM_139058.3:c.467G>A MANE Select NP_620689.1:p.Trp156Ter
Search 100 bp 5'
Search 100 bp 3'