Canonical Allele Identifier: CA412612168
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031195T>A (hg19) chrX:g.25013078T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013078T>A , CM000685.2:g.25013078T>A GRCh38
NC_000023.10:g.25031195T>A , CM000685.1:g.25031195T>A GRCh37
NC_000023.9:g.24941116T>A NCBI36
NG_008281.1:g.7871A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.917A>T MANE Select ENSP00000368332.4:p.Asp306Val
ENST00000379044.4:c.917A>T ENSP00000368332.4:p.Asp306Val
NM_139058.2:c.917A>T NP_620689.1:p.Asp306Val
NM_139058.3:c.917A>T MANE Select NP_620689.1:p.Asp306Val
Search 100 bp 5'
Search 100 bp 3'