Canonical Allele Identifier: CA602583552
Gene: ROBO3 HGNC NCBI

Linked Data

dbSNP Id: rs1454393547
gnomAD v2: 11-124742772-T-C
gnomAD v3: 11-124872876-T-C
gnomAD v4: 11-124872876-T-C
MyVariant Identifiers: chr11:g.124742772T>C (hg19) chr11:g.124872876T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124872876T>C , CM000673.2:g.124872876T>C GRCh38
NC_000011.9:g.124742772T>C , CM000673.1:g.124742772T>C GRCh37
NC_000011.8:g.124247982T>C NCBI36
NG_016214.1:g.12468T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1331-8T>C MANE Select ENSP00000380903.1:n.1331-8T>C
ENST00000397801.5:c.1331-8T>C ENSP00000380903.1:n.1331-8T>C
ENST00000538940.5:c.1265-8T>C ENSP00000441797.1:n.1265-8T>C
NM_022370.3:c.1331-8T>C NP_071765.2:n.1331-8T>C
XM_011542953.1:c.2303-8T>C XP_011541255.1:n.2303-8T>C
XM_017018122.1:c.1265-8T>C XP_016873611.1:n.1265-8T>C
NM_022370.4:c.1331-8T>C MANE Select NP_071765.2:n.1331-8T>C
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