Canonical Allele Identifier: CA233280
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 157739
ClinVar RCV Id: RCV000145038
dbSNP Id: rs587783182

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010268G>A , CM000685.2:g.25010268G>A GRCh38
NC_000023.10:g.25028385G>A , CM000685.1:g.25028385G>A GRCh37
NC_000023.9:g.24938306G>A NCBI36
NG_008281.1:g.10681C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1111C>T MANE Select ENSP00000368332.4:p.Arg371Ter
ENST00000379044.4:c.1111C>T ENSP00000368332.4:p.Arg371Ter
NM_139058.2:c.1111C>T NP_620689.1:p.Arg371Ter
NM_139058.3:c.1111C>T MANE Select NP_620689.1:p.Arg371Ter