Canonical Allele Identifier: CA412612101
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 982932
ClinVar RCV Id: RCV001262667
dbSNP Id: rs2048708756

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013049C>T , CM000685.2:g.25013049C>T GRCh38
NC_000023.10:g.25031166C>T , CM000685.1:g.25031166C>T GRCh37
NC_000023.9:g.24941087C>T NCBI36
NG_008281.1:g.7900G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.946G>A MANE Select ENSP00000368332.4:p.Gly316Ser
ENST00000379044.4:c.946G>A ENSP00000368332.4:p.Gly316Ser
NM_139058.2:c.946G>A NP_620689.1:p.Gly316Ser
NM_139058.3:c.946G>A MANE Select NP_620689.1:p.Gly316Ser