Canonical Allele Identifier: CA412613693
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25033660T>G (hg19) chrX:g.25015543T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015543T>G , CM000685.2:g.25015543T>G GRCh38
NC_000023.10:g.25033660T>G , CM000685.1:g.25033660T>G GRCh37
NC_000023.9:g.24943581T>G NCBI36
NG_008281.1:g.5406A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.195A>C MANE Select ENSP00000368332.4:p.Gln65His
ENST00000379044.4:c.195A>C ENSP00000368332.4:p.Gln65His
NM_139058.2:c.195A>C NP_620689.1:p.Gln65His
NM_139058.3:c.195A>C MANE Select NP_620689.1:p.Gln65His
Search 100 bp 5'
Search 100 bp 3'