Canonical Allele Identifier: CA383142533
Gene: ROBO3 HGNC NCBI

Linked Data

ClinVar Variation Id: 996106
ClinVar RCV Id: RCV001290390
dbSNP Id: rs1946299628
MyVariant Identifiers: chr11:g.124742899T>C (hg19) chr11:g.124873003T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124873003T>C , CM000673.2:g.124873003T>C GRCh38
NC_000011.9:g.124742899T>C , CM000673.1:g.124742899T>C GRCh37
NC_000011.8:g.124248109T>C NCBI36
NG_016214.1:g.12595T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1450T>C MANE Select ENSP00000380903.1:p.Trp484Arg
ENST00000397801.5:c.1450T>C ENSP00000380903.1:p.Trp484Arg
ENST00000538940.5:c.1384T>C ENSP00000441797.1:p.Trp462Arg
NM_022370.3:c.1450T>C NP_071765.2:p.Trp484Arg
XM_011542953.1:c.2422T>C XP_011541255.1:p.Trp808Arg
XM_017018122.1:c.1384T>C XP_016873611.1:p.Trp462Arg
NM_022370.4:c.1450T>C MANE Select NP_071765.2:p.Trp484Arg
Search 100 bp 5'
Search 100 bp 3'