Canonical Allele Identifier: CA233287
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 157758
ClinVar RCV Id: RCV000145057 RCV000650175 RCV002514786
dbSNP Id: rs587783201
gnomAD v3: X-25013541-C-T
gnomAD v4: X-25013541-C-T
MyVariant Identifiers: chrX:g.25031658C>T (hg19) chrX:g.25013541C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013541C>T , CM000685.2:g.25013541C>T GRCh38
NC_000023.10:g.25031658C>T , CM000685.1:g.25031658C>T GRCh37
NC_000023.9:g.24941579C>T NCBI36
NG_008281.1:g.7408G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.454G>A MANE Select ENSP00000368332.4:p.Ala152Thr
ENST00000379044.4:c.454G>A ENSP00000368332.4:p.Ala152Thr
NM_139058.2:c.454G>A NP_620689.1:p.Ala152Thr
NM_139058.3:c.454G>A MANE Select NP_620689.1:p.Ala152Thr
Search 100 bp 5'
Search 100 bp 3'