Canonical Allele Identifier: CA16609169
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 385683
ClinVar RCV Id: RCV000421315
dbSNP Id: rs1057522298
gnomAD v2: X-25022785-C-G
gnomAD v4: X-25004668-C-G
MyVariant Identifiers: chrX:g.25022785C>G (hg19) chrX:g.25004668C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004668C>G , CM000685.2:g.25004668C>G GRCh38
NC_000023.10:g.25022785C>G , CM000685.1:g.25022785C>G GRCh37
NC_000023.9:g.24932706C>G NCBI36
NG_008281.1:g.16281G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.*2G>C MANE Select ENSP00000368332.4:n.*2G>C
ENST00000379044.4:c.*2G>C ENSP00000368332.4:n.*2G>C
NM_139058.2:c.*2G>C NP_620689.1:n.*2G>C
NM_139058.3:c.*2G>C MANE Select NP_620689.1:n.*2G>C
Search 100 bp 5'
Search 100 bp 3'