Canonical Allele Identifier: CA412613636
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 540219
ClinVar RCV Id: RCV000650177 RCV002424522
dbSNP Id: rs1556056580
gnomAD v4: X-25013780-C-G
MyVariant Identifiers: chrX:g.25031897C>G (hg19) chrX:g.25013780C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013780C>G , CM000685.2:g.25013780C>G GRCh38
NC_000023.10:g.25031897C>G , CM000685.1:g.25031897C>G GRCh37
NC_000023.9:g.24941818C>G NCBI36
NG_008281.1:g.7169G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.215G>C MANE Select ENSP00000368332.4:p.Ser72Thr
ENST00000379044.4:c.215G>C ENSP00000368332.4:p.Ser72Thr
NM_139058.2:c.215G>C NP_620689.1:p.Ser72Thr
NM_139058.3:c.215G>C MANE Select NP_620689.1:p.Ser72Thr
Search 100 bp 5'
Search 100 bp 3'