Canonical Allele Identifier: CA412611718
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010265C>G , CM000685.2:g.25010265C>G GRCh38
NC_000023.10:g.25028382C>G , CM000685.1:g.25028382C>G GRCh37
NC_000023.9:g.24938303C>G NCBI36
NG_008281.1:g.10684G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.4:c.1114G>C ENSP00000368332.4:p.Val372Leu
NM_139058.2:c.1114G>C NP_620689.1:p.Val372Leu
NM_139058.3:c.1114G>C MANE Select NP_620689.1:p.Val372Leu