Canonical Allele Identifier: CA327732411
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1109702
ClinVar RCV Id: RCV001435660
dbSNP Id: rs770318189
gnomAD v2: X-25022979-C-T
gnomAD v3: X-25004862-C-T
gnomAD v4: X-25004862-C-T
MyVariant Identifiers: chrX:g.25022979C>T (hg19) chrX:g.25004862C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004862C>T , CM000685.2:g.25004862C>T GRCh38
NC_000023.10:g.25022979C>T , CM000685.1:g.25022979C>T GRCh37
NC_000023.9:g.24932900C>T NCBI36
NG_008281.1:g.16087G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1497G>A MANE Select ENSP00000368332.4:p.Ala499=
ENST00000636885.1:n.85G>A
ENST00000379044.4:c.1497G>A ENSP00000368332.4:p.Ala499=
NM_139058.2:c.1497G>A NP_620689.1:p.Ala499=
NM_139058.3:c.1497G>A MANE Select NP_620689.1:p.Ala499=
Search 100 bp 5'
Search 100 bp 3'