Canonical Allele Identifier: CA412612296
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2147323695

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013136C>G , CM000685.2:g.25013136C>G GRCh38
NC_000023.10:g.25031253C>G , CM000685.1:g.25031253C>G GRCh37
NC_000023.9:g.24941174C>G NCBI36
NG_008281.1:g.7813G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.859G>C MANE Select ENSP00000368332.4:p.Gly287Arg
ENST00000379044.4:c.859G>C ENSP00000368332.4:p.Gly287Arg
NM_139058.2:c.859G>C NP_620689.1:p.Gly287Arg
NM_139058.3:c.859G>C MANE Select NP_620689.1:p.Gly287Arg