Canonical Allele Identifier: CA7491192

Gene: NDUFAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41387503G>C , CM000677.2:g.41387503G>C	GRCh38
NC_000015.9:g.41679701G>C , CM000677.1:g.41679701G>C	GRCh37
NC_000015.8:g.39466993G>C	NCBI36
NG_031924.1:g.19958C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.925C>G MANE Select	ENSP00000260361.4:p.His309Asp
ENST00000560978.2:c.925C>G	ENSP00000453944.2:p.His309Asp
ENST00000676533.1:c.*900C>G	ENSP00000504040.1:n.*900C>G
ENST00000676906.1:c.466C>G	ENSP00000503122.1:p.His156Asp
ENST00000678745.1:c.*233C>G	ENSP00000503632.1:n.*233C>G
ENST00000679094.1:c.*900C>G	ENSP00000504295.1:n.*900C>G
ENST00000260361.8:c.925C>G	ENSP00000260361.4:p.His309Asp
ENST00000559127.5:c.*393C>G	ENSP00000453027.1:n.*393C>G
NM_016013.3:c.925C>G	NP_057097.2:p.His309Asp
NR_045620.1:n.1577C>G
XM_006720555.1:c.925C>G	XP_006720618.1:p.His309Asp
XM_011521658.1:c.925C>G	XP_011519960.1:p.His309Asp
XM_011521659.1:c.*30C>G	XP_011519961.1:n.*30C>G
XM_006720555.3:c.925C>G	XP_006720618.1:p.His309Asp
XM_011521659.3:c.*30C>G	XP_011519961.1:n.*30C>G
XM_024449945.1:c.*30C>G	XP_024305713.1:n.*30C>G
NM_016013.4:c.925C>G MANE Select	NP_057097.2:p.His309Asp
NR_045620.2:n.1613C>G