Canonical Allele Identifier: CA10373875
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs780812117
ExAC: X:25031297 C / A
MyVariant Identifiers: chrX:g.25031297C>A (hg19) chrX:g.25013180C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013180C>A , CM000685.2:g.25013180C>A GRCh38
NC_000023.10:g.25031297C>A , CM000685.1:g.25031297C>A GRCh37
NC_000023.9:g.24941218C>A NCBI36
NG_008281.1:g.7769G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.815G>T MANE Select ENSP00000368332.4:p.Gly272Val
ENST00000379044.4:c.815G>T ENSP00000368332.4:p.Gly272Val
NM_139058.2:c.815G>T NP_620689.1:p.Gly272Val
NM_139058.3:c.815G>T MANE Select NP_620689.1:p.Gly272Val
Search 100 bp 5'
Search 100 bp 3'