Canonical Allele Identifier: CA412612532
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013258T>A , CM000685.2:g.25013258T>A GRCh38
NC_000023.10:g.25031375T>A , CM000685.1:g.25031375T>A GRCh37
NC_000023.9:g.24941296T>A NCBI36
NG_008281.1:g.7691A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.737A>T MANE Select ENSP00000368332.4:p.Asp246Val
ENST00000379044.4:c.737A>T ENSP00000368332.4:p.Asp246Val
NM_139058.2:c.737A>T NP_620689.1:p.Asp246Val
NM_139058.3:c.737A>T MANE Select NP_620689.1:p.Asp246Val