Canonical Allele Identifier: CA383142531

Gene: ROBO3

Linked Data

• dbSNP Id: rs556647372
• MyVariant Identifiers: chr11:g.124742897G>T (hg19) ; chr11:g.124873001G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124873001G>T , CM000673.2:g.124873001G>T	GRCh38
NC_000011.9:g.124742897G>T , CM000673.1:g.124742897G>T	GRCh37
NC_000011.8:g.124248107G>T	NCBI36
NG_016214.1:g.12593G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397801.6:c.1448G>T MANE Select	ENSP00000380903.1:p.Arg483Leu
ENST00000397801.5:c.1448G>T	ENSP00000380903.1:p.Arg483Leu
ENST00000538940.5:c.1382G>T	ENSP00000441797.1:p.Arg461Leu
NM_022370.3:c.1448G>T	NP_071765.2:p.Arg483Leu
XM_011542953.1:c.2420G>T	XP_011541255.1:p.Arg807Leu
XM_017018122.1:c.1382G>T	XP_016873611.1:p.Arg461Leu
NM_022370.4:c.1448G>T MANE Select	NP_071765.2:p.Arg483Leu