Canonical Allele Identifier: CA412613033
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 594611
ClinVar RCV Id: RCV000729942
dbSNP Id: rs1569395494
gnomAD v4: X-25013489-A-T
MyVariant Identifiers: chrX:g.25031606A>T (hg19) chrX:g.25013489A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013489A>T , CM000685.2:g.25013489A>T GRCh38
NC_000023.10:g.25031606A>T , CM000685.1:g.25031606A>T GRCh37
NC_000023.9:g.24941527A>T NCBI36
NG_008281.1:g.7460T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.506T>A MANE Select ENSP00000368332.4:p.Ile169Asn
ENST00000379044.4:c.506T>A ENSP00000368332.4:p.Ile169Asn
NM_139058.2:c.506T>A NP_620689.1:p.Ile169Asn
NM_139058.3:c.506T>A MANE Select NP_620689.1:p.Ile169Asn
Search 100 bp 5'
Search 100 bp 3'