Canonical Allele Identifier: CA359719589

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942091A>C (hg19) ; chr5:g.53646261A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646261A>C , CM000667.2:g.53646261A>C	GRCh38
NC_000005.9:g.52942091A>C , CM000667.1:g.52942091A>C	GRCh37
NC_000005.8:g.52977848A>C	NCBI36
NG_008200.1:g.90627A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.206A>C MANE Select	ENSP00000296684.5:p.Glu69Ala
ENST00000296684.9:c.206A>C	ENSP00000296684.5:p.Glu69Ala
ENST00000502423.5:c.*73A>C	ENSP00000422177.1:n.*73A>C
ENST00000506765.1:c.194A>C	ENSP00000424570.1:p.Glu65Ala
ENST00000506974.5:c.378A>C	ENSP00000425967.1:p.Arg126Ser
ENST00000507026.5:c.*180A>C	ENSP00000424993.1:n.*180A>C
ENST00000509443.1:n.67A>C
NM_002495.2:c.206A>C	NP_002486.1:p.Glu69Ala
XM_005248525.3:c.206A>C	XP_005248582.1:p.Glu69Ala
XM_011543415.1:c.32A>C	XP_011541717.1:p.Glu11Ala
NM_001318051.1:c.206A>C	NP_001304980.1:p.Glu69Ala
NM_002495.3:c.206A>C	NP_002486.1:p.Glu69Ala
NR_134473.1:n.408A>C
NR_134474.1:n.325A>C
NR_134475.1:n.360A>C
NM_002495.4:c.206A>C MANE Select	NP_002486.1:p.Glu69Ala
NM_001318051.2:c.206A>C	NP_001304980.1:p.Glu69Ala
NR_134473.2:n.402A>C
NR_134474.2:n.319A>C
NR_134475.2:n.354A>C