Canonical Allele Identifier: CA359719207

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954426A>C (hg19) ; chr5:g.53658596A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658596A>C , CM000667.2:g.53658596A>C	GRCh38
NC_000005.9:g.52954426A>C , CM000667.1:g.52954426A>C	GRCh37
NC_000005.8:g.52990183A>C	NCBI36
NG_008200.1:g.102962A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.396A>C MANE Select	ENSP00000296684.5:p.Glu132Asp
ENST00000296684.9:c.396A>C	ENSP00000296684.5:p.Glu132Asp
ENST00000502423.5:c.*263A>C	ENSP00000422177.1:n.*263A>C
ENST00000506765.1:c.338+12191A>C	ENSP00000424570.1:n.338+12191A>C
ENST00000506974.5:c.*172A>C	ENSP00000425967.1:n.*172A>C
ENST00000507026.5:c.*370A>C	ENSP00000424993.1:n.*370A>C
ENST00000509443.1:n.257A>C
NM_002495.2:c.396A>C	NP_002486.1:p.Glu132Asp
XM_005248525.3:c.350+12191A>C	XP_005248582.1:n.350+12191A>C
XM_011543415.1:c.222A>C	XP_011541717.1:p.Glu74Asp
NM_001318051.1:c.350+12191A>C	NP_001304980.1:n.350+12191A>C
NM_002495.3:c.396A>C	NP_002486.1:p.Glu132Asp
NR_134473.1:n.598A>C
NR_134474.1:n.515A>C
NR_134475.1:n.550A>C
NM_002495.4:c.396A>C MANE Select	NP_002486.1:p.Glu132Asp
NM_001318051.2:c.350+12191A>C	NP_001304980.1:n.350+12191A>C
NR_134473.2:n.592A>C
NR_134474.2:n.509A>C
NR_134475.2:n.544A>C