Canonical Allele Identifier: CA515748154
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 514021
ClinVar RCV Id: RCV000603180
dbSNP Id: rs1556046934
MyVariant Identifiers: chrX:g.25023015T>C (hg19) chrX:g.25004898T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004898T>C , CM000685.2:g.25004898T>C GRCh38
NC_000023.10:g.25023015T>C , CM000685.1:g.25023015T>C GRCh37
NC_000023.9:g.24932936T>C NCBI36
NG_008281.1:g.16051A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1461A>G MANE Select ENSP00000368332.4:p.Thr487=
ENST00000636885.1:n.49A>G
ENST00000379044.4:c.1461A>G ENSP00000368332.4:p.Thr487=
NM_139058.2:c.1461A>G NP_620689.1:p.Thr487=
NM_139058.3:c.1461A>G MANE Select NP_620689.1:p.Thr487=
Search 100 bp 5'
Search 100 bp 3'