Canonical Allele Identifier: CA412611840
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012931A>T , CM000685.2:g.25012931A>T GRCh38
NC_000023.10:g.25031048A>T , CM000685.1:g.25031048A>T GRCh37
NC_000023.9:g.24940969A>T NCBI36
NG_008281.1:g.8018T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1064T>A MANE Select ENSP00000368332.4:p.Val355Asp
ENST00000379044.4:c.1064T>A ENSP00000368332.4:p.Val355Asp
NM_139058.2:c.1064T>A NP_620689.1:p.Val355Asp
NM_139058.3:c.1064T>A MANE Select NP_620689.1:p.Val355Asp