Canonical Allele Identifier: CA10373806
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 390241
ClinVar RCV Id: RCV000443769
dbSNP Id: rs757030151
ExAC: X:25025299 C / T
gnomAD v2: X-25025299-C-T
gnomAD v4: X-25007182-C-T
MyVariant Identifiers: chrX:g.25025299C>T (hg19) chrX:g.25007182C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007182C>T , CM000685.2:g.25007182C>T GRCh38
NC_000023.10:g.25025299C>T , CM000685.1:g.25025299C>T GRCh37
NC_000023.9:g.24935220C>T NCBI36
NG_008281.1:g.13767G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1377G>A MANE Select ENSP00000368332.4:p.Pro459=
ENST00000379044.4:c.1377G>A ENSP00000368332.4:p.Pro459=
NM_139058.2:c.1377G>A NP_620689.1:p.Pro459=
NM_139058.3:c.1377G>A MANE Select NP_620689.1:p.Pro459=
Search 100 bp 5'
Search 100 bp 3'