Canonical Allele Identifier: CA6344318
Community Standard Title: NM_022370.4(ROBO3):c.3911C>T (p.Ala1304Val)
Gene: ROBO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124879901C>T , CM000673.2:g.124879901C>T GRCh38
NC_000011.9:g.124749797C>T , CM000673.1:g.124749797C>T GRCh37
NC_000011.8:g.124255007C>T NCBI36
NG_016214.1:g.19493C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022370.4:c.3911C>T MANE Select NP_071765.2:p.Ala1304Val
ENST00000397801.6:c.3911C>T MANE Select ENSP00000380903.1:p.Ala1304Val
NM_001370356.1:c.1058C>T NP_001357285.1:p.Ala353Val
NM_001370357.1:c.1058C>T NP_001357286.1:p.Ala353Val
NM_001370358.1:c.1058C>T NP_001357287.1:p.Ala353Val
NM_001370359.1:c.1058C>T NP_001357288.1:p.Ala353Val
NM_001370361.1:c.1058C>T NP_001357290.1:p.Ala353Val
NM_001370364.1:c.863C>T NP_001357293.1:p.Ala288Val
NM_001370366.1:c.863C>T NP_001357295.1:p.Ala288Val
NM_022370.3:c.3911C>T NP_071765.2:p.Ala1304Val
NR_163409.1:n.1059C>T
NR_163410.1:n.1150C>T
NR_163411.1:n.1302C>T
NR_163412.1:n.1345C>T
NR_163413.1:n.875C>T
NR_163414.1:n.1126C>T
NR_163415.1:n.680C>T
ENST00000397801.5:c.3911C>T ENSP00000380903.1:p.Ala1304Val
ENST00000524971.1:n.810C>T
ENST00000525304.5:n.731C>T
ENST00000525448.5:n.1673C>T
ENST00000525482.5:n.1180C>T
ENST00000527196.5:n.1472C>T
ENST00000527245.5:n.2789C>T
ENST00000529658.5:n.1806C>T
ENST00000531075.5:n.619C>T
ENST00000538940.5:c.3845C>T ENSP00000441797.1:p.Ala1282Val
ENST00000543966.5:c.200C>T ENSP00000438799.1:p.Ala67Val
XM_011542953.1:c.4883C>T XP_011541255.1:p.Ala1628Val
XM_017018122.1:c.3845C>T XP_016873611.1:p.Ala1282Val