Canonical Allele Identifier: CA352728547
Gene: NDUFAF3 HGNC NCBI

Linked Data

dbSNP Id: rs1559912583

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49022507C>T , CM000665.2:g.49022507C>T GRCh38
NC_000003.11:g.49059940C>T , CM000665.1:g.49059940C>T GRCh37
NC_000003.10:g.49034944C>T NCBI36
NG_012091.1:g.11936G>A
NG_016282.1:g.7033C>T
NG_033126.1:g.3565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326925.11:c.239C>T MANE Select ENSP00000323076.5:p.Ala80Val
ENST00000326912.8:c.68C>T ENSP00000323003.4:p.Ala23Val
ENST00000326925.10:c.239C>T ENSP00000323076.5:p.Ala80Val
ENST00000395458.6:c.68C>T ENSP00000378843.2:p.Ala23Val
ENST00000451378.2:c.68C>T ENSP00000402465.2:p.Ala23Val
ENST00000480392.1:n.263C>T
ENST00000496152.1:n.395C>T
NM_199069.1:c.239C>T NP_951032.1:p.Ala80Val
NM_199070.1:c.68C>T NP_951033.1:p.Ala23Val
NM_199073.1:c.68C>T NP_951047.1:p.Ala23Val
NM_199074.1:c.68C>T NP_951056.1:p.Ala23Val
NM_199069.2:c.239C>T MANE Select NP_951032.1:p.Ala80Val
NM_199070.2:c.68C>T NP_951033.1:p.Ala23Val
NM_199073.2:c.68C>T NP_951047.1:p.Ala23Val
NM_199074.2:c.68C>T NP_951056.1:p.Ala23Val