Canonical Allele Identifier: CA412610973
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25023023A>C (hg19) chrX:g.25004906A>C (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1453T>G MANE Select ENSP00000368332.4:p.Phe485Val
ENST00000636885.1:n.41T>G
ENST00000379044.4:c.1453T>G ENSP00000368332.4:p.Phe485Val
NM_139058.2:c.1453T>G NP_620689.1:p.Phe485Val
NM_139058.3:c.1453T>G MANE Select NP_620689.1:p.Phe485Val
Search 100 bp 5'
Search 100 bp 3'