Canonical Allele Identifier: CA515946947
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1435254261
gnomAD v3: X-25007128-G-T
gnomAD v4: X-25007128-G-T
COSMIC: COSM5773496
MyVariant Identifiers: chrX:g.25025245G>T (hg19) chrX:g.25007128G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007128G>T , CM000685.2:g.25007128G>T GRCh38
NC_000023.10:g.25025245G>T , CM000685.1:g.25025245G>T GRCh37
NC_000023.9:g.24935166G>T NCBI36
NG_008281.1:g.13821C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1431C>A MANE Select ENSP00000368332.4:p.Ile477=
ENST00000637993.1:c.44C>A
ENST00000379044.4:c.1431C>A ENSP00000368332.4:p.Ile477=
NM_139058.2:c.1431C>A NP_620689.1:p.Ile477=
NM_139058.3:c.1431C>A MANE Select NP_620689.1:p.Ile477=
Search 100 bp 5'
Search 100 bp 3'