Canonical Allele Identifier: CA359719187

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954417T>A (hg19) ; chr5:g.53658587T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658587T>A , CM000667.2:g.53658587T>A	GRCh38
NC_000005.9:g.52954417T>A , CM000667.1:g.52954417T>A	GRCh37
NC_000005.8:g.52990174T>A	NCBI36
NG_008200.1:g.102953T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.387T>A MANE Select	ENSP00000296684.5:p.Ser129Arg
ENST00000296684.9:c.387T>A	ENSP00000296684.5:p.Ser129Arg
ENST00000502423.5:c.*254T>A	ENSP00000422177.1:n.*254T>A
ENST00000506765.1:c.338+12182T>A	ENSP00000424570.1:n.338+12182T>A
ENST00000506974.5:c.*163T>A	ENSP00000425967.1:n.*163T>A
ENST00000507026.5:c.*361T>A	ENSP00000424993.1:n.*361T>A
ENST00000509443.1:n.248T>A
NM_002495.2:c.387T>A	NP_002486.1:p.Ser129Arg
XM_005248525.3:c.350+12182T>A	XP_005248582.1:n.350+12182T>A
XM_011543415.1:c.213T>A	XP_011541717.1:p.Ser71Arg
NM_001318051.1:c.350+12182T>A	NP_001304980.1:n.350+12182T>A
NM_002495.3:c.387T>A	NP_002486.1:p.Ser129Arg
NR_134473.1:n.589T>A
NR_134474.1:n.506T>A
NR_134475.1:n.541T>A
NM_002495.4:c.387T>A MANE Select	NP_002486.1:p.Ser129Arg
NM_001318051.2:c.350+12182T>A	NP_001304980.1:n.350+12182T>A
NR_134473.2:n.583T>A
NR_134474.2:n.500T>A
NR_134475.2:n.535T>A