Canonical Allele Identifier: CA149541
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 96453
ClinVar RCV Id: RCV000082603 RCV000415758 RCV000532975 RCV002313831
dbSNP Id: rs190910161
ExAC: X:25022805 C / T
gnomAD v2: X-25022805-C-T
gnomAD v3: X-25004688-C-T
gnomAD v4: X-25004688-C-T
MyVariant Identifiers: chrX:g.25022805C>T (hg19) chrX:g.25004688C>T (hg38)
PubMed: PMID:16523516 PMID:21496008
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004688C>T , CM000685.2:g.25004688C>T GRCh38
NC_000023.10:g.25022805C>T , CM000685.1:g.25022805C>T GRCh37
NC_000023.9:g.24932726C>T NCBI36
NG_008281.1:g.16261G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1671G>A MANE Select ENSP00000368332.4:p.Thr557=
ENST00000379044.4:c.1671G>A ENSP00000368332.4:p.Thr557=
NM_139058.2:c.1671G>A NP_620689.1:p.Thr557=
NM_139058.3:c.1671G>A MANE Select NP_620689.1:p.Thr557=
Search 100 bp 5'
Search 100 bp 3'