Canonical Allele Identifier: CA6344380
Community Standard Title: NM_022370.4(ROBO3):c.4098T>C (p.Ser1366=)
Gene: ROBO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124880557T>C , CM000673.2:g.124880557T>C GRCh38
NC_000011.9:g.124750453T>C , CM000673.1:g.124750453T>C GRCh37
NC_000011.8:g.124255663T>C NCBI36
NG_016214.1:g.20149T>C

Transcript Alleles

HGVS Amino-acid Change
NM_022370.4:c.4098T>C MANE Select NP_071765.2:p.Ser1366=
ENST00000397801.6:c.4098T>C MANE Select ENSP00000380903.1:p.Ser1366=
NM_001370356.1:c.1245T>C NP_001357285.1:p.Ser415=
NM_001370357.1:c.1245T>C NP_001357286.1:p.Ser415=
NM_001370358.1:c.1245T>C NP_001357287.1:p.Ser415=
NM_001370359.1:c.1245T>C NP_001357288.1:p.Ser415=
NM_001370361.1:c.1245T>C NP_001357290.1:p.Ser415=
NM_001370364.1:c.1050T>C NP_001357293.1:p.Ser350=
NM_001370366.1:c.1050T>C NP_001357295.1:p.Ser350=
NM_022370.3:c.4098T>C NP_071765.2:p.Ser1366=
NR_163409.1:n.1246T>C
NR_163410.1:n.1337T>C
NR_163411.1:n.1489T>C
NR_163412.1:n.1532T>C
NR_163413.1:n.1062T>C
NR_163414.1:n.1313T>C
NR_163415.1:n.867T>C
ENST00000397801.5:c.4098T>C ENSP00000380903.1:p.Ser1366=
ENST00000525304.5:n.918T>C
ENST00000525448.5:n.1860T>C
ENST00000525482.5:n.1367T>C
ENST00000527196.5:n.1659T>C
ENST00000527245.5:n.2976T>C
ENST00000529658.5:n.1993T>C
ENST00000538940.5:c.4032T>C ENSP00000441797.1:p.Ser1344=
ENST00000543966.5:c.387T>C ENSP00000438799.1:p.Ser129=
XM_011542953.1:c.5070T>C XP_011541255.1:p.Ser1690=
XM_017018122.1:c.4032T>C XP_016873611.1:p.Ser1344=