Canonical Allele Identifier: CA383142320
Gene: ROBO3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124872908T>C , CM000673.2:g.124872908T>C GRCh38
NC_000011.9:g.124742804T>C , CM000673.1:g.124742804T>C GRCh37
NC_000011.8:g.124248014T>C NCBI36
NG_016214.1:g.12500T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1355T>C MANE Select ENSP00000380903.1:p.Val452Ala
ENST00000397801.5:c.1355T>C ENSP00000380903.1:p.Val452Ala
ENST00000538940.5:c.1289T>C ENSP00000441797.1:p.Val430Ala
NM_022370.3:c.1355T>C NP_071765.2:p.Val452Ala
XM_011542953.1:c.2327T>C XP_011541255.1:p.Val776Ala
XM_017018122.1:c.1289T>C XP_016873611.1:p.Val430Ala
NM_022370.4:c.1355T>C MANE Select NP_071765.2:p.Val452Ala