Canonical Allele Identifier: CA230397937
Community Standard Title: NM_022370.4(ROBO3):c.3937C>T (p.Gln1313Ter)
Gene: ROBO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124879927C>T , CM000673.2:g.124879927C>T GRCh38
NC_000011.9:g.124749823C>T , CM000673.1:g.124749823C>T GRCh37
NC_000011.8:g.124255033C>T NCBI36
NG_016214.1:g.19519C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022370.4:c.3937C>T MANE Select NP_071765.2:p.Gln1313Ter
ENST00000397801.6:c.3937C>T MANE Select ENSP00000380903.1:p.Gln1313Ter
NM_001370356.1:c.1084C>T NP_001357285.1:p.Gln362Ter
NM_001370357.1:c.1084C>T NP_001357286.1:p.Gln362Ter
NM_001370358.1:c.1084C>T NP_001357287.1:p.Gln362Ter
NM_001370359.1:c.1084C>T NP_001357288.1:p.Gln362Ter
NM_001370361.1:c.1084C>T NP_001357290.1:p.Gln362Ter
NM_001370364.1:c.889C>T NP_001357293.1:p.Gln297Ter
NM_001370366.1:c.889C>T NP_001357295.1:p.Gln297Ter
NM_022370.3:c.3937C>T NP_071765.2:p.Gln1313Ter
NR_163409.1:n.1085C>T
NR_163410.1:n.1176C>T
NR_163411.1:n.1328C>T
NR_163412.1:n.1371C>T
NR_163413.1:n.901C>T
NR_163414.1:n.1152C>T
NR_163415.1:n.706C>T
ENST00000397801.5:c.3937C>T ENSP00000380903.1:p.Gln1313Ter
ENST00000524971.1:n.836C>T
ENST00000525304.5:n.757C>T
ENST00000525448.5:n.1699C>T
ENST00000525482.5:n.1206C>T
ENST00000527196.5:n.1498C>T
ENST00000527245.5:n.2815C>T
ENST00000529658.5:n.1832C>T
ENST00000531075.5:n.645C>T
ENST00000538940.5:c.3871C>T ENSP00000441797.1:p.Gln1291Ter
ENST00000543966.5:c.226C>T ENSP00000438799.1:p.Gln76Ter
XM_011542953.1:c.4909C>T XP_011541255.1:p.Gln1637Ter
XM_017018122.1:c.3871C>T XP_016873611.1:p.Gln1291Ter