Canonical Allele Identifier: CA412612806
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 664053
ClinVar RCV Id: RCV000822062 RCV001251911
dbSNP Id: rs755745002
gnomAD v4: X-25013384-C-A
MyVariant Identifiers: chrX:g.25031501C>A (hg19) chrX:g.25013384C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013384C>A , CM000685.2:g.25013384C>A GRCh38
NC_000023.10:g.25031501C>A , CM000685.1:g.25031501C>A GRCh37
NC_000023.9:g.24941422C>A NCBI36
NG_008281.1:g.7565G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.611G>T MANE Select ENSP00000368332.4:p.Arg204Leu
ENST00000379044.4:c.611G>T ENSP00000368332.4:p.Arg204Leu
NM_139058.2:c.611G>T NP_620689.1:p.Arg204Leu
NM_139058.3:c.611G>T MANE Select NP_620689.1:p.Arg204Leu
Search 100 bp 5'
Search 100 bp 3'