Canonical Allele Identifier: CA383142534

Gene: ROBO3

Linked Data

• gnomAD v3: 11-124873003-T-G
• gnomAD v4: 11-124873003-T-G
• MyVariant Identifiers: chr11:g.124742899T>G (hg19) ; chr11:g.124873003T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124873003T>G , CM000673.2:g.124873003T>G	GRCh38
NC_000011.9:g.124742899T>G , CM000673.1:g.124742899T>G	GRCh37
NC_000011.8:g.124248109T>G	NCBI36
NG_016214.1:g.12595T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397801.6:c.1450T>G MANE Select	ENSP00000380903.1:p.Trp484Gly
ENST00000397801.5:c.1450T>G	ENSP00000380903.1:p.Trp484Gly
ENST00000538940.5:c.1384T>G	ENSP00000441797.1:p.Trp462Gly
NM_022370.3:c.1450T>G	NP_071765.2:p.Trp484Gly
XM_011542953.1:c.2422T>G	XP_011541255.1:p.Trp808Gly
XM_017018122.1:c.1384T>G	XP_016873611.1:p.Trp462Gly
NM_022370.4:c.1450T>G MANE Select	NP_071765.2:p.Trp484Gly