Canonical Allele Identifier: CA359719572

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942081G>C (hg19) ; chr5:g.53646251G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646251G>C , CM000667.2:g.53646251G>C	GRCh38
NC_000005.9:g.52942081G>C , CM000667.1:g.52942081G>C	GRCh37
NC_000005.8:g.52977838G>C	NCBI36
NG_008200.1:g.90617G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.196G>C MANE Select	ENSP00000296684.5:p.Gly66Arg
ENST00000296684.9:c.196G>C	ENSP00000296684.5:p.Gly66Arg
ENST00000502423.5:c.*63G>C	ENSP00000422177.1:n.*63G>C
ENST00000506765.1:c.184G>C	ENSP00000424570.1:p.Gly62Arg
ENST00000506974.5:c.368G>C	ENSP00000425967.1:p.Trp123Ser
ENST00000507026.5:c.*170G>C	ENSP00000424993.1:n.*170G>C
ENST00000509443.1:n.57G>C
NM_002495.2:c.196G>C	NP_002486.1:p.Gly66Arg
XM_005248525.3:c.196G>C	XP_005248582.1:p.Gly66Arg
XM_011543415.1:c.22G>C	XP_011541717.1:p.Gly8Arg
NM_001318051.1:c.196G>C	NP_001304980.1:p.Gly66Arg
NM_002495.3:c.196G>C	NP_002486.1:p.Gly66Arg
NR_134473.1:n.398G>C
NR_134474.1:n.315G>C
NR_134475.1:n.350G>C
NM_002495.4:c.196G>C MANE Select	NP_002486.1:p.Gly66Arg
NM_001318051.2:c.196G>C	NP_001304980.1:p.Gly66Arg
NR_134473.2:n.392G>C
NR_134474.2:n.309G>C
NR_134475.2:n.344G>C