Canonical Allele Identifier: CA10373780
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 434395
ClinVar RCV Id: RCV000503084 RCV001214951 RCV001562919 RCV002395212
dbSNP Id: rs767404024
ExAC: X:25023014 T / C
gnomAD v2: X-25023014-T-C
gnomAD v3: X-25004897-T-C
gnomAD v4: X-25004897-T-C
MyVariant Identifiers: chrX:g.25023014T>C (hg19) chrX:g.25004897T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004897T>C , CM000685.2:g.25004897T>C GRCh38
NC_000023.10:g.25023014T>C , CM000685.1:g.25023014T>C GRCh37
NC_000023.9:g.24932935T>C NCBI36
NG_008281.1:g.16052A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1462A>G MANE Select ENSP00000368332.4:p.Met488Val
ENST00000636885.1:n.50A>G
ENST00000379044.4:c.1462A>G ENSP00000368332.4:p.Met488Val
NM_139058.2:c.1462A>G NP_620689.1:p.Met488Val
NM_139058.3:c.1462A>G MANE Select NP_620689.1:p.Met488Val
Search 100 bp 5'
Search 100 bp 3'