Canonical Allele Identifier: CA515947553
Gene: ARX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.25031359C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013242C>G , CM000685.2:g.25013242C>G GRCh38
NC_000023.10:g.25031359C>G , CM000685.1:g.25031359C>G GRCh37
NC_000023.9:g.24941280C>G NCBI36
NG_008281.1:g.7707G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.753G>C MANE Select ENSP00000368332.4:p.Leu251=
ENST00000379044.4:c.753G>C ENSP00000368332.4:p.Leu251=
NM_139058.2:c.753G>C NP_620689.1:p.Leu251=
NM_139058.3:c.753G>C MANE Select NP_620689.1:p.Leu251=
Search 100 bp 5'
Search 100 bp 3'