Canonical Allele Identifier: CA6343490
Gene: ROBO3 HGNC NCBI

Linked Data

ClinVar Variation Id: 996105
ClinVar RCV Id: RCV001290389
dbSNP Id: rs767693909
ExAC: 11:124742882 C / T
gnomAD v2: 11-124742882-C-T
gnomAD v4: 11-124872986-C-T
MyVariant Identifiers: chr11:g.124742882C>T (hg19) chr11:g.124872986C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124872986C>T , CM000673.2:g.124872986C>T GRCh38
NC_000011.9:g.124742882C>T , CM000673.1:g.124742882C>T GRCh37
NC_000011.8:g.124248092C>T NCBI36
NG_016214.1:g.12578C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1433C>T MANE Select ENSP00000380903.1:p.Pro478Leu
ENST00000397801.5:c.1433C>T ENSP00000380903.1:p.Pro478Leu
ENST00000538940.5:c.1367C>T ENSP00000441797.1:p.Pro456Leu
NM_022370.3:c.1433C>T NP_071765.2:p.Pro478Leu
XM_011542953.1:c.2405C>T XP_011541255.1:p.Pro802Leu
XM_017018122.1:c.1367C>T XP_016873611.1:p.Pro456Leu
NM_022370.4:c.1433C>T MANE Select NP_071765.2:p.Pro478Leu
Search 100 bp 5'
Search 100 bp 3'