Canonical Allele Identifier: CA515947668
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2943273
ClinVar RCV Id: RCV003800391
dbSNP Id: rs2048712208
gnomAD v4: X-25013539-G-T
MyVariant Identifiers: chrX:g.25031656G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013539G>T , CM000685.2:g.25013539G>T GRCh38
NC_000023.10:g.25031656G>T , CM000685.1:g.25031656G>T GRCh37
NC_000023.9:g.24941577G>T NCBI36
NG_008281.1:g.7410C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.456C>A MANE Select ENSP00000368332.4:p.Ala152=
ENST00000379044.4:c.456C>A ENSP00000368332.4:p.Ala152=
NM_139058.2:c.456C>A NP_620689.1:p.Ala152=
NM_139058.3:c.456C>A MANE Select NP_620689.1:p.Ala152=
Search 100 bp 5'
Search 100 bp 3'