Canonical Allele Identifier: CA208774
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 210323
ClinVar RCV Id: RCV000194540
dbSNP Id: rs797045293
gnomAD v2: X-25033653-C-A
gnomAD v4: X-25015536-C-A
MyVariant Identifiers: chrX:g.25033653C>A (hg19) chrX:g.25015536C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015536C>A , CM000685.2:g.25015536C>A GRCh38
NC_000023.10:g.25033653C>A , CM000685.1:g.25033653C>A GRCh37
NC_000023.9:g.24943574C>A NCBI36
NG_008281.1:g.5413G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.196+6G>T MANE Select ENSP00000368332.4:n.196+6G>T
ENST00000379044.4:c.196+6G>T ENSP00000368332.4:n.196+6G>T
NM_139058.2:c.196+6G>T NP_620689.1:n.196+6G>T
NM_139058.3:c.196+6G>T MANE Select NP_620689.1:n.196+6G>T
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