Canonical Allele Identifier: CA383142524
Gene: ROBO3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.124742893G>C (hg19) chr11:g.124872997G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124872997G>C , CM000673.2:g.124872997G>C GRCh38
NC_000011.9:g.124742893G>C , CM000673.1:g.124742893G>C GRCh37
NC_000011.8:g.124248103G>C NCBI36
NG_016214.1:g.12589G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1444G>C MANE Select ENSP00000380903.1:p.Val482Leu
ENST00000397801.5:c.1444G>C ENSP00000380903.1:p.Val482Leu
ENST00000538940.5:c.1378G>C ENSP00000441797.1:p.Val460Leu
NM_022370.3:c.1444G>C NP_071765.2:p.Val482Leu
XM_011542953.1:c.2416G>C XP_011541255.1:p.Val806Leu
XM_017018122.1:c.1378G>C XP_016873611.1:p.Val460Leu
NM_022370.4:c.1444G>C MANE Select NP_071765.2:p.Val482Leu
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