Canonical Allele Identifier: CA6343485
Gene: ROBO3 HGNC NCBI

Linked Data

dbSNP Id: rs776462777
ExAC: 11:124742861 C / T
gnomAD v2: 11-124742861-C-T
gnomAD v3: 11-124872965-C-T
gnomAD v4: 11-124872965-C-T
MyVariant Identifiers: chr11:g.124742861C>T (hg19) chr11:g.124872965C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124872965C>T , CM000673.2:g.124872965C>T GRCh38
NC_000011.9:g.124742861C>T , CM000673.1:g.124742861C>T GRCh37
NC_000011.8:g.124248071C>T NCBI36
NG_016214.1:g.12557C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1412C>T MANE Select ENSP00000380903.1:p.Pro471Leu
ENST00000397801.5:c.1412C>T ENSP00000380903.1:p.Pro471Leu
ENST00000538940.5:c.1346C>T ENSP00000441797.1:p.Pro449Leu
NM_022370.3:c.1412C>T NP_071765.2:p.Pro471Leu
XM_011542953.1:c.2384C>T XP_011541255.1:p.Pro795Leu
XM_017018122.1:c.1346C>T XP_016873611.1:p.Pro449Leu
NM_022370.4:c.1412C>T MANE Select NP_071765.2:p.Pro471Leu
Search 100 bp 5'
Search 100 bp 3'