Canonical Allele Identifier: CA327732599
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1054360692
MyVariant Identifiers: chrX:g.25024980G>C (hg19) chrX:g.25006863G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25006863G>C , CM000685.2:g.25006863G>C GRCh38
NC_000023.10:g.25024980G>C , CM000685.1:g.25024980G>C GRCh37
NC_000023.9:g.24934901G>C NCBI36
NG_008281.1:g.14086C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1448+248C>G MANE Select ENSP00000368332.4:n.1448+248C>G
ENST00000637993.1:c.62-236C>G
ENST00000379044.4:c.1448+248C>G ENSP00000368332.4:n.1448+248C>G
NM_139058.2:c.1448+248C>G NP_620689.1:n.1448+248C>G
NM_139058.3:c.1448+248C>G MANE Select NP_620689.1:n.1448+248C>G
Search 100 bp 5'
Search 100 bp 3'