Canonical Allele Identifier: CA412613296
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031732G>A (hg19) chrX:g.25013615G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013615G>A , CM000685.2:g.25013615G>A GRCh38
NC_000023.10:g.25031732G>A , CM000685.1:g.25031732G>A GRCh37
NC_000023.9:g.24941653G>A NCBI36
NG_008281.1:g.7334C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.380C>T MANE Select ENSP00000368332.4:p.Pro127Leu
ENST00000379044.4:c.380C>T ENSP00000368332.4:p.Pro127Leu
NM_139058.2:c.380C>T NP_620689.1:p.Pro127Leu
NM_139058.3:c.380C>T MANE Select NP_620689.1:p.Pro127Leu
Search 100 bp 5'
Search 100 bp 3'