Canonical Allele Identifier: CA412610908
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004873T>C , CM000685.2:g.25004873T>C GRCh38
NC_000023.10:g.25022990T>C , CM000685.1:g.25022990T>C GRCh37
NC_000023.9:g.24932911T>C NCBI36
NG_008281.1:g.16076A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1486A>G MANE Select ENSP00000368332.4:p.Thr496Ala
ENST00000636885.1:n.74A>G
ENST00000379044.4:c.1486A>G ENSP00000368332.4:p.Thr496Ala
NM_139058.2:c.1486A>G NP_620689.1:p.Thr496Ala
NM_139058.3:c.1486A>G MANE Select NP_620689.1:p.Thr496Ala