Canonical Allele Identifier: CA412612134
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1172786679
gnomAD v2: X-25031181-C-T
gnomAD v4: X-25013064-C-T
MyVariant Identifiers: chrX:g.25031181C>T (hg19) chrX:g.25013064C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013064C>T , CM000685.2:g.25013064C>T GRCh38
NC_000023.10:g.25031181C>T , CM000685.1:g.25031181C>T GRCh37
NC_000023.9:g.24941102C>T NCBI36
NG_008281.1:g.7885G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.931G>A MANE Select ENSP00000368332.4:p.Val311Met
ENST00000379044.4:c.931G>A ENSP00000368332.4:p.Val311Met
NM_139058.2:c.931G>A NP_620689.1:p.Val311Met
NM_139058.3:c.931G>A MANE Select NP_620689.1:p.Val311Met
Search 100 bp 5'
Search 100 bp 3'