Canonical Allele Identifier: CA359719592

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942092A>C (hg19) ; chr5:g.53646262A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646262A>C , CM000667.2:g.53646262A>C	GRCh38
NC_000005.9:g.52942092A>C , CM000667.1:g.52942092A>C	GRCh37
NC_000005.8:g.52977849A>C	NCBI36
NG_008200.1:g.90628A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.207A>C MANE Select	ENSP00000296684.5:p.Glu69Asp
ENST00000296684.9:c.207A>C	ENSP00000296684.5:p.Glu69Asp
ENST00000502423.5:c.*74A>C	ENSP00000422177.1:n.*74A>C
ENST00000506765.1:c.195A>C	ENSP00000424570.1:p.Glu65Asp
ENST00000506974.5:c.379A>C	ENSP00000425967.1:p.Arg127=
ENST00000507026.5:c.*181A>C	ENSP00000424993.1:n.*181A>C
ENST00000509443.1:n.68A>C
NM_002495.2:c.207A>C	NP_002486.1:p.Glu69Asp
XM_005248525.3:c.207A>C	XP_005248582.1:p.Glu69Asp
XM_011543415.1:c.33A>C	XP_011541717.1:p.Glu11Asp
NM_001318051.1:c.207A>C	NP_001304980.1:p.Glu69Asp
NM_002495.3:c.207A>C	NP_002486.1:p.Glu69Asp
NR_134473.1:n.409A>C
NR_134474.1:n.326A>C
NR_134475.1:n.361A>C
NM_002495.4:c.207A>C MANE Select	NP_002486.1:p.Glu69Asp
NM_001318051.2:c.207A>C	NP_001304980.1:p.Glu69Asp
NR_134473.2:n.403A>C
NR_134474.2:n.320A>C
NR_134475.2:n.355A>C