Canonical Allele Identifier: CA412612395
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013190-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013190C>T , CM000685.2:g.25013190C>T GRCh38
NC_000023.10:g.25031307C>T , CM000685.1:g.25031307C>T GRCh37
NC_000023.9:g.24941228C>T NCBI36
NG_008281.1:g.7759G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.805G>A MANE Select ENSP00000368332.4:p.Ala269Thr
ENST00000379044.4:c.805G>A ENSP00000368332.4:p.Ala269Thr
NM_139058.2:c.805G>A NP_620689.1:p.Ala269Thr
NM_139058.3:c.805G>A MANE Select NP_620689.1:p.Ala269Thr