Canonical Allele Identifier: CA383156620
Community Standard Title: NM_022370.4(ROBO3):c.3493C>T (p.Gln1165Ter)
Gene: ROBO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124878756C>T , CM000673.2:g.124878756C>T GRCh38
NC_000011.9:g.124748652C>T , CM000673.1:g.124748652C>T GRCh37
NC_000011.8:g.124253862C>T NCBI36
NG_016214.1:g.18348C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022370.4:c.3493C>T MANE Select NP_071765.2:p.Gln1165Ter
ENST00000397801.6:c.3493C>T MANE Select ENSP00000380903.1:p.Gln1165Ter
NM_001370356.1:c.640C>T NP_001357285.1:p.Gln214Ter
NM_001370357.1:c.640C>T NP_001357286.1:p.Gln214Ter
NM_001370358.1:c.640C>T NP_001357287.1:p.Gln214Ter
NM_001370359.1:c.640C>T NP_001357288.1:p.Gln214Ter
NM_001370361.1:c.640C>T NP_001357290.1:p.Gln214Ter
NM_001370364.1:c.445C>T NP_001357293.1:p.Gln149Ter
NM_001370366.1:c.445C>T NP_001357295.1:p.Gln149Ter
NM_022370.3:c.3493C>T NP_071765.2:p.Gln1165Ter
NR_163409.1:n.682-434C>T
NR_163410.1:n.732C>T
NR_163411.1:n.884C>T
NR_163412.1:n.927C>T
NR_163413.1:n.457C>T
NR_163414.1:n.708C>T
NR_163415.1:n.303-434C>T
ENST00000397801.5:c.3493C>T ENSP00000380903.1:p.Gln1165Ter
ENST00000524971.1:n.392C>T
ENST00000525304.5:n.313C>T
ENST00000525448.5:n.1255C>T
ENST00000525482.5:n.762C>T
ENST00000527196.5:n.1054C>T
ENST00000527245.5:n.1978C>T
ENST00000528144.5:n.548C>T
ENST00000528820.5:n.429C>T
ENST00000529658.5:n.1388C>T
ENST00000531075.5:n.242-434C>T
ENST00000538940.5:c.3427C>T ENSP00000441797.1:p.Gln1143Ter
ENST00000543966.5:c.-219C>T ENSP00000438799.1:n.-219C>T
XM_011542953.1:c.4465C>T XP_011541255.1:p.Gln1489Ter
XM_017018122.1:c.3427C>T XP_016873611.1:p.Gln1143Ter