Canonical Allele Identifier: CA2420206905
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs2048680435
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25006904C>T , CM000685.2:g.25006904C>T GRCh38
NC_000023.10:g.25025021C>T , CM000685.1:g.25025021C>T GRCh37
NC_000023.9:g.24934942C>T NCBI36
NG_008281.1:g.14045G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1448+207G>A MANE Select ENSP00000368332.4:n.1448+207G>A
ENST00000637993.1:c.61+207G>A
ENST00000379044.4:c.1448+207G>A ENSP00000368332.4:n.1448+207G>A
NM_139058.2:c.1448+207G>A NP_620689.1:n.1448+207G>A
NM_139058.3:c.1448+207G>A MANE Select NP_620689.1:n.1448+207G>A
Search 100 bp 5'
Search 100 bp 3'