Canonical Allele Identifier: CA16608868
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 382129
ClinVar RCV Id: RCV000435602 RCV003766244
dbSNP Id: rs1057521263
gnomAD v2: X-25025416-A-C
gnomAD v4: X-25007299-A-C
MyVariant Identifiers: chrX:g.25025416A>C (hg19) chrX:g.25007299A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007299A>C , CM000685.2:g.25007299A>C GRCh38
NC_000023.10:g.25025416A>C , CM000685.1:g.25025416A>C GRCh37
NC_000023.9:g.24935337A>C NCBI36
NG_008281.1:g.13650T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1260T>G MANE Select ENSP00000368332.4:p.Pro420=
ENST00000379044.4:c.1260T>G ENSP00000368332.4:p.Pro420=
NM_139058.2:c.1260T>G NP_620689.1:p.Pro420=
NM_139058.3:c.1260T>G MANE Select NP_620689.1:p.Pro420=
Search 100 bp 5'
Search 100 bp 3'