Canonical Allele Identifier: CA515947727
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2115200
ClinVar RCV Id: RCV003046337
dbSNP Id: rs2048712536
gnomAD v3: X-25013560-G-C
gnomAD v4: X-25013560-G-C
MyVariant Identifiers: chrX:g.25031677G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013560G>C , CM000685.2:g.25013560G>C GRCh38
NC_000023.10:g.25031677G>C , CM000685.1:g.25031677G>C GRCh37
NC_000023.9:g.24941598G>C NCBI36
NG_008281.1:g.7389C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.435C>G MANE Select ENSP00000368332.4:p.Ala145=
ENST00000379044.4:c.435C>G ENSP00000368332.4:p.Ala145=
NM_139058.2:c.435C>G NP_620689.1:p.Ala145=
NM_139058.3:c.435C>G MANE Select NP_620689.1:p.Ala145=
Search 100 bp 5'
Search 100 bp 3'