Canonical Allele Identifier: CA412612479
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048709899
MyVariant Identifiers: chrX:g.25031351T>C (hg19) chrX:g.25013234T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013234T>C , CM000685.2:g.25013234T>C GRCh38
NC_000023.10:g.25031351T>C , CM000685.1:g.25031351T>C GRCh37
NC_000023.9:g.24941272T>C NCBI36
NG_008281.1:g.7715A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.761A>G MANE Select ENSP00000368332.4:p.Asp254Gly
ENST00000379044.4:c.761A>G ENSP00000368332.4:p.Asp254Gly
NM_139058.2:c.761A>G NP_620689.1:p.Asp254Gly
NM_139058.3:c.761A>G MANE Select NP_620689.1:p.Asp254Gly
Search 100 bp 5'
Search 100 bp 3'