Canonical Allele Identifier: CA383142128
Gene: ROBO3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124872534C>G , CM000673.2:g.124872534C>G GRCh38
NC_000011.9:g.124742430C>G , CM000673.1:g.124742430C>G GRCh37
NC_000011.8:g.124247640C>G NCBI36
NG_016214.1:g.12126C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1312C>G MANE Select ENSP00000380903.1:p.Leu438Val
ENST00000397801.5:c.1312C>G ENSP00000380903.1:p.Leu438Val
ENST00000538940.5:c.1246C>G ENSP00000441797.1:p.Leu416Val
NM_022370.3:c.1312C>G NP_071765.2:p.Leu438Val
XM_011542953.1:c.2284C>G XP_011541255.1:p.Leu762Val
XM_017018122.1:c.1246C>G XP_016873611.1:p.Leu416Val
NM_022370.4:c.1312C>G MANE Select NP_071765.2:p.Leu438Val