Canonical Allele Identifier: CA874143064
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1436990247
gnomAD v3: X-25006870-A-C
gnomAD v4: X-25006870-A-C
MyVariant Identifiers: chrX:g.25024987A>C (hg19) chrX:g.25006870A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25006870A>C , CM000685.2:g.25006870A>C GRCh38
NC_000023.10:g.25024987A>C , CM000685.1:g.25024987A>C GRCh37
NC_000023.9:g.24934908A>C NCBI36
NG_008281.1:g.14079T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1448+241T>G MANE Select ENSP00000368332.4:n.1448+241T>G
ENST00000637993.1:c.61+241T>G
ENST00000379044.4:c.1448+241T>G ENSP00000368332.4:n.1448+241T>G
NM_139058.2:c.1448+241T>G NP_620689.1:n.1448+241T>G
NM_139058.3:c.1448+241T>G MANE Select NP_620689.1:n.1448+241T>G
Search 100 bp 5'
Search 100 bp 3'