Canonical Allele Identifier: CA2740092062
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2939114
ClinVar RCV Id: RCV003791840
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012904A>G , CM000685.2:g.25012904A>G GRCh38
NC_000023.10:g.25031021A>G , CM000685.1:g.25031021A>G GRCh37
NC_000023.9:g.24940942A>G NCBI36
NG_008281.1:g.8045T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1073+18T>C MANE Select ENSP00000368332.4:n.1073+18T>C
ENST00000379044.4:c.1073+18T>C ENSP00000368332.4:n.1073+18T>C
NM_139058.2:c.1073+18T>C NP_620689.1:n.1073+18T>C
NM_139058.3:c.1073+18T>C MANE Select NP_620689.1:n.1073+18T>C
Search 100 bp 5'
Search 100 bp 3'