Canonical Allele Identifier: CA515947099
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2103414
ClinVar RCV Id: RCV003028854
dbSNP Id: rs1206193986
gnomAD v2: X-25031098-G-A
gnomAD v4: X-25012981-G-A
MyVariant Identifiers: chrX:g.25031098G>A (hg19) chrX:g.25012981G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012981G>A , CM000685.2:g.25012981G>A GRCh38
NC_000023.10:g.25031098G>A , CM000685.1:g.25031098G>A GRCh37
NC_000023.9:g.24941019G>A NCBI36
NG_008281.1:g.7968C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1014C>T MANE Select ENSP00000368332.4:p.Tyr338=
ENST00000379044.4:c.1014C>T ENSP00000368332.4:p.Tyr338=
NM_139058.2:c.1014C>T NP_620689.1:p.Tyr338=
NM_139058.3:c.1014C>T MANE Select NP_620689.1:p.Tyr338=
Search 100 bp 5'
Search 100 bp 3'