Canonical Allele Identifier: CA515947456
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1091782
ClinVar RCV Id: RCV001411413
dbSNP Id: rs1190644757
gnomAD v2: X-25031275-G-C
gnomAD v4: X-25013158-G-C
MyVariant Identifiers: chrX:g.25031275G>C (hg19) chrX:g.25013158G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013158G>C , CM000685.2:g.25013158G>C GRCh38
NC_000023.10:g.25031275G>C , CM000685.1:g.25031275G>C GRCh37
NC_000023.9:g.24941196G>C NCBI36
NG_008281.1:g.7791C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.837C>G MANE Select ENSP00000368332.4:p.Ala279=
ENST00000379044.4:c.837C>G ENSP00000368332.4:p.Ala279=
NM_139058.2:c.837C>G NP_620689.1:p.Ala279=
NM_139058.3:c.837C>G MANE Select NP_620689.1:p.Ala279=
Search 100 bp 5'
Search 100 bp 3'