Canonical Allele Identifier: CA6344020
Community Standard Title: NM_022370.4(ROBO3):c.2993G>T (p.Gly998Val)
Gene: ROBO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124877943G>T , CM000673.2:g.124877943G>T GRCh38
NC_000011.9:g.124747839G>T , CM000673.1:g.124747839G>T GRCh37
NC_000011.8:g.124253049G>T NCBI36
NG_016214.1:g.17535G>T

Transcript Alleles

HGVS Amino-acid Change
NM_022370.4:c.2993G>T MANE Select NP_071765.2:p.Gly998Val
ENST00000397801.6:c.2993G>T MANE Select ENSP00000380903.1:p.Gly998Val
NM_001370356.1:c.140G>T NP_001357285.1:p.Gly47Val
NM_001370357.1:c.140G>T NP_001357286.1:p.Gly47Val
NM_001370358.1:c.140G>T NP_001357287.1:p.Gly47Val
NM_001370359.1:c.140G>T NP_001357288.1:p.Gly47Val
NM_001370361.1:c.140G>T NP_001357290.1:p.Gly47Val
NM_001370364.1:c.133+285G>T NP_001357293.1:n.133+285G>T
NM_001370366.1:c.133+285G>T NP_001357295.1:n.133+285G>T
NM_022370.3:c.2993G>T NP_071765.2:p.Gly998Val
NR_163409.1:n.493G>T
NR_163410.1:n.420+191G>T
NR_163411.1:n.384G>T
NR_163412.1:n.427G>T
NR_163413.1:n.284+285G>T
NR_163414.1:n.396+191G>T
NR_163415.1:n.302+285G>T
ENST00000397801.5:c.2993G>T ENSP00000380903.1:p.Gly998Val
ENST00000525448.5:n.755G>T
ENST00000525482.5:n.262G>T
ENST00000526551.5:n.314+285G>T
ENST00000527196.5:n.554G>T
ENST00000527245.5:n.1478G>T
ENST00000528144.5:n.375+285G>T
ENST00000528820.5:n.256+285G>T
ENST00000529658.5:n.888G>T
ENST00000531075.5:n.241+285G>T
ENST00000534598.5:n.579G>T
ENST00000538940.5:c.2927G>T ENSP00000441797.1:p.Gly976Val
ENST00000543966.5:c.-580G>T ENSP00000438799.1:n.-580G>T
XM_011542953.1:c.3965G>T XP_011541255.1:p.Gly1322Val
XM_017018122.1:c.2927G>T XP_016873611.1:p.Gly976Val