Canonical Allele Identifier: CA515947480
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2940557
ClinVar RCV Id: RCV003799867
dbSNP Id: rs2048709739
gnomAD v4: X-25013221-C-G
MyVariant Identifiers: chrX:g.25031338C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013221C>G , CM000685.2:g.25013221C>G GRCh38
NC_000023.10:g.25031338C>G , CM000685.1:g.25031338C>G GRCh37
NC_000023.9:g.24941259C>G NCBI36
NG_008281.1:g.7728G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.774G>C MANE Select ENSP00000368332.4:p.Ala258=
ENST00000379044.4:c.774G>C ENSP00000368332.4:p.Ala258=
NM_139058.2:c.774G>C NP_620689.1:p.Ala258=
NM_139058.3:c.774G>C MANE Select NP_620689.1:p.Ala258=
Search 100 bp 5'
Search 100 bp 3'