Canonical Allele Identifier: CA641006216
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1259413853
gnomAD v2: X-25028158-C-T
gnomAD v3: X-25010041-C-T
gnomAD v4: X-25010041-C-T
MyVariant Identifiers: chrX:g.25028158C>T (hg19) chrX:g.25010041C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010041C>T , CM000685.2:g.25010041C>T GRCh38
NC_000023.10:g.25028158C>T , CM000685.1:g.25028158C>T GRCh37
NC_000023.9:g.24938079C>T NCBI36
NG_008281.1:g.10908G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1119+219G>A MANE Select ENSP00000368332.4:n.1119+219G>A
ENST00000379044.4:c.1119+219G>A ENSP00000368332.4:n.1119+219G>A
NM_139058.2:c.1119+219G>A NP_620689.1:n.1119+219G>A
NM_139058.3:c.1119+219G>A MANE Select NP_620689.1:n.1119+219G>A
Search 100 bp 5'
Search 100 bp 3'