Canonical Allele Identifier: CA10373782
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1712543
dbSNP Id: rs752649243
gnomAD v2: X-25023026-G-T
gnomAD v4: X-25004909-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004909G>T , CM000685.2:g.25004909G>T GRCh38
NC_000023.10:g.25023026G>T , CM000685.1:g.25023026G>T GRCh37
NC_000023.9:g.24932947G>T NCBI36
NG_008281.1:g.16040C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1450C>A MANE Select ENSP00000368332.4:p.Leu484Ile
ENST00000636885.1:n.38C>A
ENST00000379044.4:c.1450C>A ENSP00000368332.4:p.Leu484Ile
NM_139058.2:c.1450C>A NP_620689.1:p.Leu484Ile
NM_139058.3:c.1450C>A MANE Select NP_620689.1:p.Leu484Ile