Canonical Allele Identifier: CA874146423
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1466905901

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012812C>T , CM000685.2:g.25012812C>T GRCh38
NC_000023.10:g.25030929C>T , CM000685.1:g.25030929C>T GRCh37
NC_000023.9:g.24940850C>T NCBI36
NG_008281.1:g.8137G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1073+110G>A MANE Select ENSP00000368332.4:n.1073+110G>A
ENST00000379044.4:c.1073+110G>A ENSP00000368332.4:n.1073+110G>A
NM_139058.2:c.1073+110G>A NP_620689.1:n.1073+110G>A
NM_139058.3:c.1073+110G>A MANE Select NP_620689.1:n.1073+110G>A