Canonical Allele Identifier: CA515748640
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010263G>T , CM000685.2:g.25010263G>T GRCh38
NC_000023.10:g.25028380G>T , CM000685.1:g.25028380G>T GRCh37
NC_000023.9:g.24938301G>T NCBI36
NG_008281.1:g.10686C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1116C>A MANE Select ENSP00000368332.4:p.Val372=
ENST00000379044.4:c.1116C>A ENSP00000368332.4:p.Val372=
NM_139058.2:c.1116C>A NP_620689.1:p.Val372=
NM_139058.3:c.1116C>A MANE Select NP_620689.1:p.Val372=