Canonical Allele Identifier: CA10373797
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1983821
ClinVar RCV Id: RCV002756672
dbSNP Id: rs777796224
ExAC: X:25025212 C / T
gnomAD v2: X-25025212-C-T
gnomAD v3: X-25007095-C-T
gnomAD v4: X-25007095-C-T
MyVariant Identifiers: chrX:g.25025212C>T (hg19) chrX:g.25007095C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007095C>T , CM000685.2:g.25007095C>T GRCh38
NC_000023.10:g.25025212C>T , CM000685.1:g.25025212C>T GRCh37
NC_000023.9:g.24935133C>T NCBI36
NG_008281.1:g.13854G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1448+16G>A MANE Select ENSP00000368332.4:n.1448+16G>A
ENST00000637993.1:c.61+16G>A
ENST00000379044.4:c.1448+16G>A ENSP00000368332.4:n.1448+16G>A
NM_139058.2:c.1448+16G>A NP_620689.1:n.1448+16G>A
NM_139058.3:c.1448+16G>A MANE Select NP_620689.1:n.1448+16G>A
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