Canonical Allele Identifier: CA383142029
Gene: ROBO3 HGNC NCBI

Linked Data

dbSNP Id: rs1168915550
gnomAD v2: 11-124742401-G-A
gnomAD v4: 11-124872505-G-A
MyVariant Identifiers: chr11:g.124742401G>A (hg19) chr11:g.124872505G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124872505G>A , CM000673.2:g.124872505G>A GRCh38
NC_000011.9:g.124742401G>A , CM000673.1:g.124742401G>A GRCh37
NC_000011.8:g.124247611G>A NCBI36
NG_016214.1:g.12097G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1283G>A MANE Select ENSP00000380903.1:p.Ser428Asn
ENST00000397801.5:c.1283G>A ENSP00000380903.1:p.Ser428Asn
ENST00000538940.5:c.1217G>A ENSP00000441797.1:p.Ser406Asn
NM_022370.3:c.1283G>A NP_071765.2:p.Ser428Asn
XM_011542953.1:c.2255G>A XP_011541255.1:p.Ser752Asn
XM_017018122.1:c.1217G>A XP_016873611.1:p.Ser406Asn
NM_022370.4:c.1283G>A MANE Select NP_071765.2:p.Ser428Asn
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