Canonical Allele Identifier: CA2420206888
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048680247
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25006836A>G , CM000685.2:g.25006836A>G GRCh38
NC_000023.10:g.25024953A>G , CM000685.1:g.25024953A>G GRCh37
NC_000023.9:g.24934874A>G NCBI36
NG_008281.1:g.14113T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1448+275T>C MANE Select ENSP00000368332.4:n.1448+275T>C
ENST00000637993.1:c.62-209T>C
ENST00000379044.4:c.1448+275T>C ENSP00000368332.4:n.1448+275T>C
NM_139058.2:c.1448+275T>C NP_620689.1:n.1448+275T>C
NM_139058.3:c.1448+275T>C MANE Select NP_620689.1:n.1448+275T>C
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