Canonical Allele Identifier: CA412613454
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013693-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013693G>A , CM000685.2:g.25013693G>A GRCh38
NC_000023.10:g.25031810G>A , CM000685.1:g.25031810G>A GRCh37
NC_000023.9:g.24941731G>A NCBI36
NG_008281.1:g.7256C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.302C>T MANE Select ENSP00000368332.4:p.Ala101Val
ENST00000379044.4:c.302C>T ENSP00000368332.4:p.Ala101Val
NM_139058.2:c.302C>T NP_620689.1:p.Ala101Val
NM_139058.3:c.302C>T MANE Select NP_620689.1:p.Ala101Val