Canonical Allele Identifier: CA412611917
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031082C>T (hg19) chrX:g.25012965C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012965C>T , CM000685.2:g.25012965C>T GRCh38
NC_000023.10:g.25031082C>T , CM000685.1:g.25031082C>T GRCh37
NC_000023.9:g.24941003C>T NCBI36
NG_008281.1:g.7984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1030G>A MANE Select ENSP00000368332.4:p.Glu344Lys
ENST00000379044.4:c.1030G>A ENSP00000368332.4:p.Glu344Lys
NM_139058.2:c.1030G>A NP_620689.1:p.Glu344Lys
NM_139058.3:c.1030G>A MANE Select NP_620689.1:p.Glu344Lys
Search 100 bp 5'
Search 100 bp 3'