Canonical Allele Identifier: CA327733055
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1023212
ClinVar RCV Id: RCV001323225
dbSNP Id: rs1048593315
gnomAD v2: X-25031672-G-A
gnomAD v3: X-25013555-G-A
gnomAD v4: X-25013555-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013555G>A , CM000685.2:g.25013555G>A GRCh38
NC_000023.10:g.25031672G>A , CM000685.1:g.25031672G>A GRCh37
NC_000023.9:g.24941593G>A NCBI36
NG_008281.1:g.7394C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.440C>T MANE Select ENSP00000368332.4:p.Ala147Val
ENST00000379044.4:c.440C>T ENSP00000368332.4:p.Ala147Val
NM_139058.2:c.440C>T NP_620689.1:p.Ala147Val
NM_139058.3:c.440C>T MANE Select NP_620689.1:p.Ala147Val