Canonical Allele Identifier: CA2577233932
Gene: NDUFB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201085489dup , CM000664.2:g.201085489dup GRCh38
NC_000002.11:g.201950212dup , CM000664.1:g.201950212dup GRCh37
NC_000002.10:g.201658457dup NCBI36
NG_032156.1:g.18751dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000450023.6:c.171dup ENSP00000401834.2:p.Ala58CysfsTer8
ENST00000682325.1:c.171dup ENSP00000507925.1:p.Ala58CysfsTer8
ENST00000684175.1:c.171dup ENSP00000508132.1:p.Ala58CysfsTer8
ENST00000684420.1:c.171dup ENSP00000508208.1:p.Ala58CysfsTer8
ENST00000237889.9:c.171dup MANE Select ENSP00000237889.4:p.Ala58CysfsTer8
ENST00000237889.8:c.171dup ENSP00000237889.4:p.Ala58CysfsTer8
ENST00000433898.5:c.171dup ENSP00000410600.1:p.Ala58CysfsTer8
ENST00000450023.5:c.171dup ENSP00000401834.1:p.Ala58CysfsTer8
ENST00000454214.1:c.171dup ENSP00000407336.1:p.Ala58CysfsTer8
NM_001257102.1:c.171dup NP_001244031.1:p.Ala58CysfsTer8
NM_002491.2:c.171dup NP_002482.1:p.Ala58CysfsTer8
XM_011511230.1:c.171dup XP_011509532.1:p.Ala58CysfsTer8
XM_011511230.3:c.171dup XP_011509532.1:p.Ala58CysfsTer8
XM_017004186.2:c.171dup XP_016859675.1:p.Ala58CysfsTer8
NM_002491.3:c.171dup MANE Select NP_002482.1:p.Ala58CysfsTer8
NM_001257102.2:c.171dup NP_001244031.1:p.Ala58CysfsTer8