Canonical Allele Identifier: CA6343446
Gene: ROBO3 HGNC NCBI

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)
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'