Canonical Allele Identifier: CA171158
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 157760
ClinVar RCV Id: RCV001237911
dbSNP Id: rs587783203
gnomAD v2: X-25031487-C-G
gnomAD v3: X-25013370-C-G
gnomAD v4: X-25013370-C-G
MyVariant Identifiers: chrX:g.25031487C>G (hg19) chrX:g.25013370C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013370C>G , CM000685.2:g.25013370C>G GRCh38
NC_000023.10:g.25031487C>G , CM000685.1:g.25031487C>G GRCh37
NC_000023.9:g.24941408C>G NCBI36
NG_008281.1:g.7579G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.625G>C MANE Select ENSP00000368332.4:p.Gly209Arg
ENST00000379044.4:c.625G>C ENSP00000368332.4:p.Gly209Arg
NM_139058.2:c.625G>C NP_620689.1:p.Gly209Arg
NM_139058.3:c.625G>C MANE Select NP_620689.1:p.Gly209Arg
Search 100 bp 5'
Search 100 bp 3'