Canonical Allele Identifier: CA121411
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 11200
dbSNP Id: rs104894745
gnomAD v4: X-25012997-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012997G>T , CM000685.2:g.25012997G>T GRCh38
NC_000023.10:g.25031114G>T , CM000685.1:g.25031114G>T GRCh37
NC_000023.9:g.24941035G>T NCBI36
NG_008281.1:g.7952C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.998C>A MANE Select ENSP00000368332.4:p.Thr333Asn
ENST00000379044.4:c.998C>A ENSP00000368332.4:p.Thr333Asn
NM_139058.2:c.998C>A NP_620689.1:p.Thr333Asn
NM_139058.3:c.998C>A MANE Select NP_620689.1:p.Thr333Asn