Canonical Allele Identifier: CA6343446

Gene: ROBO3

Linked Data

• dbSNP Id: rs573809288
• ExAC: 11:124742373 G / A
• gnomAD v2: 11-124742373-G-A
• gnomAD v3: 11-124872477-G-A
• gnomAD v4: 11-124872477-G-A
• MyVariant Identifiers: chr11:g.124742373G>A (hg19) ; chr11:g.124872477G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124872477G>A , CM000673.2:g.124872477G>A	GRCh38
NC_000011.9:g.124742373G>A , CM000673.1:g.124742373G>A	GRCh37
NC_000011.8:g.124247583G>A	NCBI36
NG_016214.1:g.12069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397801.6:c.1255G>A MANE Select	ENSP00000380903.1:p.Ala419Thr
ENST00000397801.5:c.1255G>A	ENSP00000380903.1:p.Ala419Thr
ENST00000538940.5:c.1189G>A	ENSP00000441797.1:p.Ala397Thr
NM_022370.3:c.1255G>A	NP_071765.2:p.Ala419Thr
XM_011542953.1:c.2227G>A	XP_011541255.1:p.Ala743Thr
XM_017018122.1:c.1189G>A	XP_016873611.1:p.Ala397Thr
NM_022370.4:c.1255G>A MANE Select	NP_071765.2:p.Ala419Thr