Canonical Allele Identifier: CA10373838
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 759318
ClinVar RCV Id: RCV000937123
dbSNP Id: rs771822246

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010275G>A , CM000685.2:g.25010275G>A GRCh38
NC_000023.10:g.25028392G>A , CM000685.1:g.25028392G>A GRCh37
NC_000023.9:g.24938313G>A NCBI36
NG_008281.1:g.10674C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.4:c.1104C>T ENSP00000368332.4:p.Thr368=
NM_139058.2:c.1104C>T NP_620689.1:p.Thr368=
NM_139058.3:c.1104C>T MANE Select NP_620689.1:p.Thr368=