Canonical Allele Identifier: CA412611743
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010278C>G , CM000685.2:g.25010278C>G GRCh38
NC_000023.10:g.25028395C>G , CM000685.1:g.25028395C>G GRCh37
NC_000023.9:g.24938316C>G NCBI36
NG_008281.1:g.10671G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.4:c.1101G>C ENSP00000368332.4:p.Leu367Phe
NM_139058.2:c.1101G>C NP_620689.1:p.Leu367Phe
NM_139058.3:c.1101G>C MANE Select NP_620689.1:p.Leu367Phe