Canonical Allele Identifier: CA412612270
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2609796
ClinVar RCV Id: RCV003376033
dbSNP Id: rs1215880809
gnomAD v2: X-25031241-G-A
gnomAD v4: X-25013124-G-A
MyVariant Identifiers: chrX:g.25031241G>A (hg19) chrX:g.25013124G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013124G>A , CM000685.2:g.25013124G>A GRCh38
NC_000023.10:g.25031241G>A , CM000685.1:g.25031241G>A GRCh37
NC_000023.9:g.24941162G>A NCBI36
NG_008281.1:g.7825C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.871C>T MANE Select ENSP00000368332.4:p.Pro291Ser
ENST00000379044.4:c.871C>T ENSP00000368332.4:p.Pro291Ser
NM_139058.2:c.871C>T NP_620689.1:p.Pro291Ser
NM_139058.3:c.871C>T MANE Select NP_620689.1:p.Pro291Ser
Search 100 bp 5'
Search 100 bp 3'