Canonical Allele Identifier: CA412612261
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013120T>A , CM000685.2:g.25013120T>A GRCh38
NC_000023.10:g.25031237T>A , CM000685.1:g.25031237T>A GRCh37
NC_000023.9:g.24941158T>A NCBI36
NG_008281.1:g.7829A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.875A>T MANE Select ENSP00000368332.4:p.Lys292Met
ENST00000379044.4:c.875A>T ENSP00000368332.4:p.Lys292Met
NM_139058.2:c.875A>T NP_620689.1:p.Lys292Met
NM_139058.3:c.875A>T MANE Select NP_620689.1:p.Lys292Met