Canonical Allele Identifier: CA2420208994
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1246824379
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012810T>A , CM000685.2:g.25012810T>A GRCh38
NC_000023.10:g.25030927T>A , CM000685.1:g.25030927T>A GRCh37
NC_000023.9:g.24940848T>A NCBI36
NG_008281.1:g.8139A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1073+112A>T MANE Select ENSP00000368332.4:n.1073+112A>T
ENST00000379044.4:c.1073+112A>T ENSP00000368332.4:n.1073+112A>T
NM_139058.2:c.1073+112A>T NP_620689.1:n.1073+112A>T
NM_139058.3:c.1073+112A>T MANE Select NP_620689.1:n.1073+112A>T
Search 100 bp 5'
Search 100 bp 3'