Canonical Allele Identifier: CA2820109815
Gene: ARX HGNC NCBI
JSON-LD

Genomic Alleles

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

Transcript Alleles

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