Canonical Allele Identifier: CA230389544

Gene: ROBO3

Linked Data

• dbSNP Id: rs1050614241
• gnomAD v4: 11-124872922-C-G
• MyVariant Identifiers: chr11:g.124742818C>G (hg19) ; chr11:g.124872922C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124872922C>G , CM000673.2:g.124872922C>G	GRCh38
NC_000011.9:g.124742818C>G , CM000673.1:g.124742818C>G	GRCh37
NC_000011.8:g.124248028C>G	NCBI36
NG_016214.1:g.12514C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397801.6:c.1369C>G MANE Select	ENSP00000380903.1:p.Pro457Ala
ENST00000397801.5:c.1369C>G	ENSP00000380903.1:p.Pro457Ala
ENST00000538940.5:c.1303C>G	ENSP00000441797.1:p.Pro435Ala
NM_022370.3:c.1369C>G	NP_071765.2:p.Pro457Ala
XM_011542953.1:c.2341C>G	XP_011541255.1:p.Pro781Ala
XM_017018122.1:c.1303C>G	XP_016873611.1:p.Pro435Ala
NM_022370.4:c.1369C>G MANE Select	NP_071765.2:p.Pro457Ala