Canonical Allele Identifier: CA6343450
Gene: ROBO3 HGNC NCBI

Linked Data

dbSNP Id: rs753777967
ExAC: 11:124742397 G / C
gnomAD v2: 11-124742397-G-C
gnomAD v4: 11-124872501-G-C
MyVariant Identifiers: chr11:g.124742397G>C (hg19) chr11:g.124872501G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124872501G>C , CM000673.2:g.124872501G>C GRCh38
NC_000011.9:g.124742397G>C , CM000673.1:g.124742397G>C GRCh37
NC_000011.8:g.124247607G>C NCBI36
NG_016214.1:g.12093G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1279G>C MANE Select ENSP00000380903.1:p.Val427Leu
ENST00000397801.5:c.1279G>C ENSP00000380903.1:p.Val427Leu
ENST00000538940.5:c.1213G>C ENSP00000441797.1:p.Val405Leu
NM_022370.3:c.1279G>C NP_071765.2:p.Val427Leu
XM_011542953.1:c.2251G>C XP_011541255.1:p.Val751Leu
XM_017018122.1:c.1213G>C XP_016873611.1:p.Val405Leu
NM_022370.4:c.1279G>C MANE Select NP_071765.2:p.Val427Leu
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