Canonical Allele Identifier: CA2052324
Gene: NDUFB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 559384
dbSNP Id: rs139936993

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201085500T>C , CM000664.2:g.201085500T>C GRCh38
NC_000002.11:g.201950223T>C , CM000664.1:g.201950223T>C GRCh37
NC_000002.10:g.201658468T>C NCBI36
NG_032156.1:g.18762T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450023.6:c.182T>C ENSP00000401834.2:p.Val61Ala
ENST00000682325.1:c.182T>C ENSP00000507925.1:p.Val61Ala
ENST00000684175.1:c.182T>C ENSP00000508132.1:p.Val61Ala
ENST00000684420.1:c.182T>C ENSP00000508208.1:p.Val61Ala
ENST00000237889.9:c.182T>C MANE Select ENSP00000237889.4:p.Val61Ala
ENST00000237889.8:c.182T>C ENSP00000237889.4:p.Val61Ala
ENST00000433898.5:c.182T>C ENSP00000410600.1:p.Val61Ala
ENST00000450023.5:c.182T>C ENSP00000401834.1:p.Val61Ala
ENST00000454214.1:c.182T>C ENSP00000407336.1:p.Val61Ala
NM_001257102.1:c.182T>C NP_001244031.1:p.Val61Ala
NM_002491.2:c.182T>C NP_002482.1:p.Val61Ala
XM_011511230.1:c.182T>C XP_011509532.1:p.Val61Ala
XM_011511230.3:c.182T>C XP_011509532.1:p.Val61Ala
XM_017004186.2:c.182T>C XP_016859675.1:p.Val61Ala
NM_002491.3:c.182T>C MANE Select NP_002482.1:p.Val61Ala
NM_001257102.2:c.182T>C NP_001244031.1:p.Val61Ala