Canonical Allele Identifier: CA383161514
Community Standard Title: NM_022370.4(ROBO3):c.4114A>C (p.Ser1372Arg)
Gene: ROBO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124880573A>C , CM000673.2:g.124880573A>C GRCh38
NC_000011.9:g.124750469A>C , CM000673.1:g.124750469A>C GRCh37
NC_000011.8:g.124255679A>C NCBI36
NG_016214.1:g.20165A>C

Transcript Alleles

HGVS Amino-acid Change
NM_022370.4:c.4114A>C MANE Select NP_071765.2:p.Ser1372Arg
ENST00000397801.6:c.4114A>C MANE Select ENSP00000380903.1:p.Ser1372Arg
NM_001370356.1:c.1261A>C NP_001357285.1:p.Ser421Arg
NM_001370357.1:c.1261A>C NP_001357286.1:p.Ser421Arg
NM_001370358.1:c.1261A>C NP_001357287.1:p.Ser421Arg
NM_001370359.1:c.1261A>C NP_001357288.1:p.Ser421Arg
NM_001370361.1:c.1261A>C NP_001357290.1:p.Ser421Arg
NM_001370364.1:c.1066A>C NP_001357293.1:p.Ser356Arg
NM_001370366.1:c.1066A>C NP_001357295.1:p.Ser356Arg
NM_022370.3:c.4114A>C NP_071765.2:p.Ser1372Arg
NR_163409.1:n.1262A>C
NR_163410.1:n.1353A>C
NR_163411.1:n.1505A>C
NR_163412.1:n.1548A>C
NR_163413.1:n.1078A>C
NR_163414.1:n.1329A>C
NR_163415.1:n.883A>C
ENST00000397801.5:c.4114A>C ENSP00000380903.1:p.Ser1372Arg
ENST00000525448.5:n.1876A>C
ENST00000525482.5:n.1383A>C
ENST00000527196.5:n.1675A>C
ENST00000527245.5:n.2992A>C
ENST00000529658.5:n.2009A>C
ENST00000538940.5:c.4048A>C ENSP00000441797.1:p.Ser1350Arg
ENST00000543966.5:c.403A>C ENSP00000438799.1:p.Ser135Arg
XM_011542953.1:c.5086A>C XP_011541255.1:p.Ser1696Arg
XM_017018122.1:c.4048A>C XP_016873611.1:p.Ser1350Arg