Canonical Allele Identifier: CA412611767
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010289T>A , CM000685.2:g.25010289T>A GRCh38
NC_000023.10:g.25028406T>A , CM000685.1:g.25028406T>A GRCh37
NC_000023.9:g.24938327T>A NCBI36
NG_008281.1:g.10660A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1090A>T MANE Select ENSP00000368332.4:p.Arg364Trp
ENST00000379044.4:c.1090A>T ENSP00000368332.4:p.Arg364Trp
NM_139058.2:c.1090A>T NP_620689.1:p.Arg364Trp
NM_139058.3:c.1090A>T MANE Select NP_620689.1:p.Arg364Trp