Canonical Allele Identifier: CA412612952
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1467116
ClinVar RCV Id: RCV001970323
dbSNP Id: rs2147324074
gnomAD v4: X-25013454-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013454G>T , CM000685.2:g.25013454G>T GRCh38
NC_000023.10:g.25031571G>T , CM000685.1:g.25031571G>T GRCh37
NC_000023.9:g.24941492G>T NCBI36
NG_008281.1:g.7495C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.541C>A MANE Select ENSP00000368332.4:p.Pro181Thr
ENST00000379044.4:c.541C>A ENSP00000368332.4:p.Pro181Thr
NM_139058.2:c.541C>A NP_620689.1:p.Pro181Thr
NM_139058.3:c.541C>A MANE Select NP_620689.1:p.Pro181Thr