Canonical Allele Identifier: CA7491186

Gene: NDUFAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41387470C>T , CM000677.2:g.41387470C>T	GRCh38
NC_000015.9:g.41679668C>T , CM000677.1:g.41679668C>T	GRCh37
NC_000015.8:g.39466960C>T	NCBI36
NG_031924.1:g.19991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.958G>A MANE Select	ENSP00000260361.4:p.Glu320Lys
ENST00000560978.2:c.958G>A	ENSP00000453944.2:p.Glu320Lys
ENST00000676533.1:c.*933G>A	ENSP00000504040.1:n.*933G>A
ENST00000676906.1:c.499G>A	ENSP00000503122.1:p.Glu167Lys
ENST00000678745.1:c.*266G>A	ENSP00000503632.1:n.*266G>A
ENST00000679094.1:c.*933G>A	ENSP00000504295.1:n.*933G>A
ENST00000260361.8:c.958G>A	ENSP00000260361.4:p.Glu320Lys
NM_016013.3:c.958G>A	NP_057097.2:p.Glu320Lys
NR_045620.1:n.1610G>A
XM_006720555.1:c.958G>A	XP_006720618.1:p.Glu320Lys
XM_011521658.1:c.958G>A	XP_011519960.1:p.Glu320Lys
XM_011521659.1:c.*63G>A	XP_011519961.1:n.*63G>A
XM_006720555.3:c.958G>A	XP_006720618.1:p.Glu320Lys
XM_011521659.3:c.*63G>A	XP_011519961.1:n.*63G>A
XM_024449945.1:c.*63G>A	XP_024305713.1:n.*63G>A
NM_016013.4:c.958G>A MANE Select	NP_057097.2:p.Glu320Lys
NR_045620.2:n.1646G>A