Canonical Allele Identifier: CA6343499
Gene: ROBO3 HGNC NCBI

Linked Data

dbSNP Id: rs779678353
ExAC: 11:124742935 C / T
gnomAD v2: 11-124742935-C-T
gnomAD v3: 11-124873039-C-T
gnomAD v4: 11-124873039-C-T
MyVariant Identifiers: chr11:g.124742935C>T (hg19) chr11:g.124873039C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124873039C>T , CM000673.2:g.124873039C>T GRCh38
NC_000011.9:g.124742935C>T , CM000673.1:g.124742935C>T GRCh37
NC_000011.8:g.124248145C>T NCBI36
NG_016214.1:g.12631C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1486C>T MANE Select ENSP00000380903.1:p.Leu496Phe
ENST00000397801.5:c.1486C>T ENSP00000380903.1:p.Leu496Phe
ENST00000538940.5:c.1420C>T ENSP00000441797.1:p.Leu474Phe
NM_022370.3:c.1486C>T NP_071765.2:p.Leu496Phe
XM_011542953.1:c.2458C>T XP_011541255.1:p.Leu820Phe
XM_017018122.1:c.1420C>T XP_016873611.1:p.Leu474Phe
NM_022370.4:c.1486C>T MANE Select NP_071765.2:p.Leu496Phe
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