Canonical Allele Identifier: CA1320913963
Gene: NDUFB3 HGNC NCBI

Linked Data

dbSNP Id: rs2047281220

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201085497del , CM000664.2:g.201085497del GRCh38
NC_000002.11:g.201950220del , CM000664.1:g.201950220del GRCh37
NC_000002.10:g.201658465del NCBI36
NG_032156.1:g.18759del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450023.6:c.179del ENSP00000401834.2:p.Ser60MetfsTer21
ENST00000682325.1:c.179del ENSP00000507925.1:p.Ser60MetfsTer21
ENST00000684175.1:c.179del ENSP00000508132.1:p.Ser60MetfsTer21
ENST00000684420.1:c.179del ENSP00000508208.1:p.Ser60MetfsTer21
ENST00000237889.9:c.179del MANE Select ENSP00000237889.4:p.Ser60MetfsTer21
ENST00000237889.8:c.179del ENSP00000237889.4:p.Ser60MetfsTer21
ENST00000433898.5:c.179del ENSP00000410600.1:p.Ser60MetfsTer21
ENST00000450023.5:c.179del ENSP00000401834.1:p.Ser60MetfsTer?
ENST00000454214.1:c.179del ENSP00000407336.1:p.Ser60MetfsTer21
NM_001257102.1:c.179del NP_001244031.1:p.Ser60MetfsTer21
NM_002491.2:c.179del NP_002482.1:p.Ser60MetfsTer21
XM_011511230.1:c.179del XP_011509532.1:p.Ser60MetfsTer21
XM_011511230.3:c.179del XP_011509532.1:p.Ser60MetfsTer21
XM_017004186.2:c.179del XP_016859675.1:p.Ser60MetfsTer21
NM_002491.3:c.179del MANE Select NP_002482.1:p.Ser60MetfsTer21
NM_001257102.2:c.179del NP_001244031.1:p.Ser60MetfsTer21