Canonical Allele Identifier: CA383142446
Gene: ROBO3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124872961C>G , CM000673.2:g.124872961C>G GRCh38
NC_000011.9:g.124742857C>G , CM000673.1:g.124742857C>G GRCh37
NC_000011.8:g.124248067C>G NCBI36
NG_016214.1:g.12553C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1408C>G MANE Select ENSP00000380903.1:p.Leu470Val
ENST00000397801.5:c.1408C>G ENSP00000380903.1:p.Leu470Val
ENST00000538940.5:c.1342C>G ENSP00000441797.1:p.Leu448Val
NM_022370.3:c.1408C>G NP_071765.2:p.Leu470Val
XM_011542953.1:c.2380C>G XP_011541255.1:p.Leu794Val
XM_017018122.1:c.1342C>G XP_016873611.1:p.Leu448Val
NM_022370.4:c.1408C>G MANE Select NP_071765.2:p.Leu470Val