Canonical Allele Identifier: CA6343699
Gene: ROBO3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.124875145G>A
GRCh37 chr11:g.124745041G>A
Revel Score:
ENST00000397801 (MANE Select) 0.329
ENST00000538940 0.329
gnomAD v2:
11:124745041 G / A
gnomAD v3:
11:124875145 G / A
gnomAD v4:
chr11-124875145-G-A
Joint Max Group AF 0.00027694 (EAS)
Genomes Max Group AF 0.0002633 (EAS)
Exomes Max Group AF 0.00023312 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124875145G>A , CM000673.2:g.124875145G>A GRCh38
NC_000011.9:g.124745041G>A , CM000673.1:g.124745041G>A GRCh37
NC_000011.8:g.124250251G>A NCBI36
NG_016214.1:g.14737G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.2108G>A MANE Select ENSP00000380903.1:p.Arg703Gln
ENST00000397801.5:c.2108G>A ENSP00000380903.1:p.Arg703Gln
ENST00000538940.5:c.2042G>A ENSP00000441797.1:p.Arg681Gln
NM_022370.3:c.2108G>A NP_071765.2:p.Arg703Gln
XM_011542953.1:c.3080G>A XP_011541255.1:p.Arg1027Gln
XM_017018122.1:c.2042G>A XP_016873611.1:p.Arg681Gln
NM_022370.4:c.2108G>A MANE Select NP_071765.2:p.Arg703Gln
Search 100 bp 5'
Search 100 bp 3'