Canonical Allele Identifier: CA6344324
Community Standard Title: NM_022370.4(ROBO3):c.3922G>A (p.Val1308Met)
Gene: ROBO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124879912G>A , CM000673.2:g.124879912G>A GRCh38
NC_000011.9:g.124749808G>A , CM000673.1:g.124749808G>A GRCh37
NC_000011.8:g.124255018G>A NCBI36
NG_016214.1:g.19504G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022370.4:c.3922G>A MANE Select NP_071765.2:p.Val1308Met
ENST00000397801.6:c.3922G>A MANE Select ENSP00000380903.1:p.Val1308Met
NM_001370356.1:c.1069G>A NP_001357285.1:p.Val357Met
NM_001370357.1:c.1069G>A NP_001357286.1:p.Val357Met
NM_001370358.1:c.1069G>A NP_001357287.1:p.Val357Met
NM_001370359.1:c.1069G>A NP_001357288.1:p.Val357Met
NM_001370361.1:c.1069G>A NP_001357290.1:p.Val357Met
NM_001370364.1:c.874G>A NP_001357293.1:p.Val292Met
NM_001370366.1:c.874G>A NP_001357295.1:p.Val292Met
NM_022370.3:c.3922G>A NP_071765.2:p.Val1308Met
NR_163409.1:n.1070G>A
NR_163410.1:n.1161G>A
NR_163411.1:n.1313G>A
NR_163412.1:n.1356G>A
NR_163413.1:n.886G>A
NR_163414.1:n.1137G>A
NR_163415.1:n.691G>A
ENST00000397801.5:c.3922G>A ENSP00000380903.1:p.Val1308Met
ENST00000524971.1:n.821G>A
ENST00000525304.5:n.742G>A
ENST00000525448.5:n.1684G>A
ENST00000525482.5:n.1191G>A
ENST00000527196.5:n.1483G>A
ENST00000527245.5:n.2800G>A
ENST00000529658.5:n.1817G>A
ENST00000531075.5:n.630G>A
ENST00000538940.5:c.3856G>A ENSP00000441797.1:p.Val1286Met
ENST00000543966.5:c.211G>A ENSP00000438799.1:p.Val71Met
XM_011542953.1:c.4894G>A XP_011541255.1:p.Val1632Met
XM_017018122.1:c.3856G>A XP_016873611.1:p.Val1286Met