Canonical Allele Identifier: CA515947548
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1970044
ClinVar RCV Id: RCV002730341
dbSNP Id: rs2048709484
gnomAD v4: X-25013182-A-G
MyVariant Identifiers: chrX:g.25031299A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013182A>G , CM000685.2:g.25013182A>G GRCh38
NC_000023.10:g.25031299A>G , CM000685.1:g.25031299A>G GRCh37
NC_000023.9:g.24941220A>G NCBI36
NG_008281.1:g.7767T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.813T>C MANE Select ENSP00000368332.4:p.Thr271=
ENST00000379044.4:c.813T>C ENSP00000368332.4:p.Thr271=
NM_139058.2:c.813T>C NP_620689.1:p.Thr271=
NM_139058.3:c.813T>C MANE Select NP_620689.1:p.Thr271=
Search 100 bp 5'
Search 100 bp 3'