Canonical Allele Identifier: CA2839182177
Gene: ARX HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004918G>T , CM000685.2:g.25004918G>T GRCh38
NC_000023.10:g.25023035G>T , CM000685.1:g.25023035G>T GRCh37
NC_000023.9:g.24932956G>T NCBI36
NG_008281.1:g.16031C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1449-8C>A MANE Select ENSP00000368332.4:n.1449-8C>A
ENST00000636885.1:n.37-8C>A
ENST00000379044.4:c.1449-8C>A ENSP00000368332.4:n.1449-8C>A
NM_139058.2:c.1449-8C>A NP_620689.1:n.1449-8C>A
NM_139058.3:c.1449-8C>A MANE Select NP_620689.1:n.1449-8C>A
Search 100 bp 5'
Search 100 bp 3'