Canonical Allele Identifier: CA515748125
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1087515
ClinVar RCV Id: RCV001405674
dbSNP Id: rs770318189
gnomAD v2: X-25022979-C-G
gnomAD v3: X-25004862-C-G
gnomAD v4: X-25004862-C-G
MyVariant Identifiers: chrX:g.25022979C>G (hg19) chrX:g.25004862C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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