Canonical Allele Identifier: CA515948076
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1085171
ClinVar RCV Id: RCV001402492 RCV003438767
dbSNP Id: rs2048713533
gnomAD v3: X-25013680-C-T
gnomAD v4: X-25013680-C-T
MyVariant Identifiers: chrX:g.25031797C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013680C>T , CM000685.2:g.25013680C>T GRCh38
NC_000023.10:g.25031797C>T , CM000685.1:g.25031797C>T GRCh37
NC_000023.9:g.24941718C>T NCBI36
NG_008281.1:g.7269G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.315G>A MANE Select ENSP00000368332.4:p.Ala105=
ENST00000379044.4:c.315G>A ENSP00000368332.4:p.Ala105=
NM_139058.2:c.315G>A NP_620689.1:p.Ala105=
NM_139058.3:c.315G>A MANE Select NP_620689.1:p.Ala105=
Search 100 bp 5'
Search 100 bp 3'