Canonical Allele Identifier: CA383141962
Gene: ROBO3 HGNC NCBI

Linked Data

gnomAD v4: 11-124872486-T-C
MyVariant Identifiers: chr11:g.124742382T>C (hg19) chr11:g.124872486T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124872486T>C , CM000673.2:g.124872486T>C GRCh38
NC_000011.9:g.124742382T>C , CM000673.1:g.124742382T>C GRCh37
NC_000011.8:g.124247592T>C NCBI36
NG_016214.1:g.12078T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397801.6:c.1264T>C MANE Select ENSP00000380903.1:p.Tyr422His
ENST00000397801.5:c.1264T>C ENSP00000380903.1:p.Tyr422His
ENST00000538940.5:c.1198T>C ENSP00000441797.1:p.Tyr400His
NM_022370.3:c.1264T>C NP_071765.2:p.Tyr422His
XM_011542953.1:c.2236T>C XP_011541255.1:p.Tyr746His
XM_017018122.1:c.1198T>C XP_016873611.1:p.Tyr400His
NM_022370.4:c.1264T>C MANE Select NP_071765.2:p.Tyr422His
Search 100 bp 5'
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