Canonical Allele Identifier: CA515948276
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1388448189
gnomAD v2: X-25031563-C-T
gnomAD v4: X-25013446-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013446C>T , CM000685.2:g.25013446C>T GRCh38
NC_000023.10:g.25031563C>T , CM000685.1:g.25031563C>T GRCh37
NC_000023.9:g.24941484C>T NCBI36
NG_008281.1:g.7503G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.549G>A MANE Select ENSP00000368332.4:p.Val183=
ENST00000379044.4:c.549G>A ENSP00000368332.4:p.Val183=
NM_139058.2:c.549G>A NP_620689.1:p.Val183=
NM_139058.3:c.549G>A MANE Select NP_620689.1:p.Val183=