Canonical Allele Identifier: CA412611827
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012926T>A , CM000685.2:g.25012926T>A GRCh38
NC_000023.10:g.25031043T>A , CM000685.1:g.25031043T>A GRCh37
NC_000023.9:g.24940964T>A NCBI36
NG_008281.1:g.8023A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1069A>T MANE Select ENSP00000368332.4:p.Thr357Ser
ENST00000379044.4:c.1069A>T ENSP00000368332.4:p.Thr357Ser
NM_139058.2:c.1069A>T NP_620689.1:p.Thr357Ser
NM_139058.3:c.1069A>T MANE Select NP_620689.1:p.Thr357Ser