Canonical Allele Identifier: CA2390260

Gene: NDUFAF3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022767A>T , CM000665.2:g.49022767A>T	GRCh38
NC_000003.11:g.49060200A>T , CM000665.1:g.49060200A>T	GRCh37
NC_000003.10:g.49035204A>T	NCBI36
NG_012091.1:g.11676T>A
NG_016282.1:g.7293A>T
NG_033126.1:g.3305T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_199069.2:c.336A>T MANE Select	NP_951032.1:p.Ile112=
ENST00000326925.11:c.336A>T MANE Select	ENSP00000323076.5:p.Ile112=
NM_199069.1:c.336A>T	NP_951032.1:p.Ile112=
NM_199070.1:c.165A>T	NP_951033.1:p.Ile55=
NM_199070.2:c.165A>T	NP_951033.1:p.Ile55=
NM_199073.1:c.165A>T	NP_951047.1:p.Ile55=
NM_199073.2:c.165A>T	NP_951047.1:p.Ile55=
NM_199074.1:c.165A>T	NP_951056.1:p.Ile55=
NM_199074.2:c.165A>T	NP_951056.1:p.Ile55=
ENST00000326912.8:c.165A>T	ENSP00000323003.4:p.Ile55=
ENST00000326925.10:c.336A>T	ENSP00000323076.5:p.Ile112=
ENST00000395458.6:c.165A>T	ENSP00000378843.2:p.Ile55=
ENST00000451378.2:c.165A>T	ENSP00000402465.2:p.Ile55=
ENST00000480392.1:n.360A>T
ENST00000496152.1:n.492A>T