Canonical Allele Identifier: CA412612782
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 935985
ClinVar RCV Id: RCV001204695 RCV001531139
dbSNP Id: rs587783203
gnomAD v2: X-25031487-C-T
gnomAD v3: X-25013370-C-T
gnomAD v4: X-25013370-C-T
MyVariant Identifiers: chrX:g.25031487C>T (hg19) chrX:g.25013370C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013370C>T , CM000685.2:g.25013370C>T GRCh38
NC_000023.10:g.25031487C>T , CM000685.1:g.25031487C>T GRCh37
NC_000023.9:g.24941408C>T NCBI36
NG_008281.1:g.7579G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.625G>A MANE Select ENSP00000368332.4:p.Gly209Ser
ENST00000379044.4:c.625G>A ENSP00000368332.4:p.Gly209Ser
NM_139058.2:c.625G>A NP_620689.1:p.Gly209Ser
NM_139058.3:c.625G>A MANE Select NP_620689.1:p.Gly209Ser
Search 100 bp 5'
Search 100 bp 3'