Canonical Allele Identifier: CA412613150
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1519650
ClinVar RCV Id: RCV002038353
dbSNP Id: rs1184388194
gnomAD v2: X-25031657-G-C
gnomAD v3: X-25013540-G-C
gnomAD v4: X-25013540-G-C
MyVariant Identifiers: chrX:g.25031657G>C (hg19) chrX:g.25013540G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013540G>C , CM000685.2:g.25013540G>C GRCh38
NC_000023.10:g.25031657G>C , CM000685.1:g.25031657G>C GRCh37
NC_000023.9:g.24941578G>C NCBI36
NG_008281.1:g.7409C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.455C>G MANE Select ENSP00000368332.4:p.Ala152Gly
ENST00000379044.4:c.455C>G ENSP00000368332.4:p.Ala152Gly
NM_139058.2:c.455C>G NP_620689.1:p.Ala152Gly
NM_139058.3:c.455C>G MANE Select NP_620689.1:p.Ala152Gly
Search 100 bp 5'
Search 100 bp 3'