Canonical Allele Identifier: CA515748043
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2186246
ClinVar RCV Id: RCV002606490
dbSNP Id: rs1301639184
gnomAD v2: X-25022901-T-A
gnomAD v3: X-25004784-T-A
gnomAD v4: X-25004784-T-A
MyVariant Identifiers: chrX:g.25022901T>A (hg19) chrX:g.25004784T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004784T>A , CM000685.2:g.25004784T>A GRCh38
NC_000023.10:g.25022901T>A , CM000685.1:g.25022901T>A GRCh37
NC_000023.9:g.24932822T>A NCBI36
NG_008281.1:g.16165A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1575A>T MANE Select ENSP00000368332.4:p.Ala525=
ENST00000379044.4:c.1575A>T ENSP00000368332.4:p.Ala525=
NM_139058.2:c.1575A>T NP_620689.1:p.Ala525=
NM_139058.3:c.1575A>T MANE Select NP_620689.1:p.Ala525=
Search 100 bp 5'
Search 100 bp 3'