Canonical Allele Identifier: CA412610974
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25004906-A-T
MyVariant Identifiers: chrX:g.25023023A>T (hg19) chrX:g.25004906A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004906A>T , CM000685.2:g.25004906A>T GRCh38
NC_000023.10:g.25023023A>T , CM000685.1:g.25023023A>T GRCh37
NC_000023.9:g.24932944A>T NCBI36
NG_008281.1:g.16043T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1453T>A MANE Select ENSP00000368332.4:p.Phe485Ile
ENST00000636885.1:n.41T>A
ENST00000379044.4:c.1453T>A ENSP00000368332.4:p.Phe485Ile
NM_139058.2:c.1453T>A NP_620689.1:p.Phe485Ile
NM_139058.3:c.1453T>A MANE Select NP_620689.1:p.Phe485Ile
Search 100 bp 5'
Search 100 bp 3'