Canonical Allele Identifier: CA412611741
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010277T>C , CM000685.2:g.25010277T>C GRCh38
NC_000023.10:g.25028394T>C , CM000685.1:g.25028394T>C GRCh37
NC_000023.9:g.24938315T>C NCBI36
NG_008281.1:g.10672A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.4:c.1102A>G ENSP00000368332.4:p.Thr368Ala
NM_139058.2:c.1102A>G NP_620689.1:p.Thr368Ala
NM_139058.3:c.1102A>G MANE Select NP_620689.1:p.Thr368Ala