Canonical Allele Identifier: CA213174
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11205
ClinVar RCV Id: RCV000011956
dbSNP Id: rs267606666

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013763C>A , CM000685.2:g.25013763C>A GRCh38
NC_000023.9:g.24941801C>A NCBI36
NC_000023.10:g.25031880C>A , CM000685.1:g.25031880C>A GRCh37
NG_008281.1:g.7186G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.4:c.232G>T ENSP00000368332.4:p.Glu78Ter
NM_139058.2:c.232G>T VV NP_620689.1:p.Glu78Ter