Canonical Allele Identifier: CA515947356
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1560450
ClinVar RCV Id: RCV002209157
dbSNP Id: rs1211813471
gnomAD v2: X-25025482-C-A
gnomAD v3: X-25007365-C-A
gnomAD v4: X-25007365-C-A
MyVariant Identifiers: chrX:g.25025482C>A (hg19) chrX:g.25007365C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007365C>A , CM000685.2:g.25007365C>A GRCh38
NC_000023.10:g.25025482C>A , CM000685.1:g.25025482C>A GRCh37
NC_000023.9:g.24935403C>A NCBI36
NG_008281.1:g.13584G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1194G>T MANE Select ENSP00000368332.4:p.Leu398=
ENST00000379044.4:c.1194G>T ENSP00000368332.4:p.Leu398=
NM_139058.2:c.1194G>T NP_620689.1:p.Leu398=
NM_139058.3:c.1194G>T MANE Select NP_620689.1:p.Leu398=
Search 100 bp 5'
Search 100 bp 3'