Canonical Allele Identifier: CA383142620

Gene: ROBO3

Linked Data

• dbSNP Id: rs779678353
• MyVariant Identifiers: chr11:g.124742935C>A (hg19) ; chr11:g.124873039C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124873039C>A , CM000673.2:g.124873039C>A	GRCh38
NC_000011.9:g.124742935C>A , CM000673.1:g.124742935C>A	GRCh37
NC_000011.8:g.124248145C>A	NCBI36
NG_016214.1:g.12631C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397801.6:c.1486C>A MANE Select	ENSP00000380903.1:p.Leu496Ile
ENST00000397801.5:c.1486C>A	ENSP00000380903.1:p.Leu496Ile
ENST00000538940.5:c.1420C>A	ENSP00000441797.1:p.Leu474Ile
NM_022370.3:c.1486C>A	NP_071765.2:p.Leu496Ile
XM_011542953.1:c.2458C>A	XP_011541255.1:p.Leu820Ile
XM_017018122.1:c.1420C>A	XP_016873611.1:p.Leu474Ile
NM_022370.4:c.1486C>A MANE Select	NP_071765.2:p.Leu496Ile