Canonical Allele Identifier: CA412611720
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010267C>A , CM000685.2:g.25010267C>A GRCh38
NC_000023.10:g.25028384C>A , CM000685.1:g.25028384C>A GRCh37
NC_000023.9:g.24938305C>A NCBI36
NG_008281.1:g.10682G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.4:c.1112G>T ENSP00000368332.4:p.Arg371Leu
NM_139058.2:c.1112G>T NP_620689.1:p.Arg371Leu
NM_139058.3:c.1112G>T MANE Select NP_620689.1:p.Arg371Leu