Canonical Allele Identifier: CA444329862

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954411C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658581C>G , CM000667.2:g.53658581C>G	GRCh38
NC_000005.9:g.52954411C>G , CM000667.1:g.52954411C>G	GRCh37
NC_000005.8:g.52990168C>G	NCBI36
NG_008200.1:g.102947C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.381C>G MANE Select	ENSP00000296684.5:p.Thr127=
ENST00000296684.9:c.381C>G	ENSP00000296684.5:p.Thr127=
ENST00000502423.5:c.*248C>G	ENSP00000422177.1:n.*248C>G
ENST00000506765.1:c.338+12176C>G	ENSP00000424570.1:n.338+12176C>G
ENST00000506974.5:c.*157C>G	ENSP00000425967.1:n.*157C>G
ENST00000507026.5:c.*355C>G	ENSP00000424993.1:n.*355C>G
ENST00000509443.1:n.242C>G
NM_002495.2:c.381C>G	NP_002486.1:p.Thr127=
XM_005248525.3:c.350+12176C>G	XP_005248582.1:n.350+12176C>G
XM_011543415.1:c.207C>G	XP_011541717.1:p.Thr69=
NM_001318051.1:c.350+12176C>G	NP_001304980.1:n.350+12176C>G
NM_002495.3:c.381C>G	NP_002486.1:p.Thr127=
NR_134473.1:n.583C>G
NR_134474.1:n.500C>G
NR_134475.1:n.535C>G
NM_002495.4:c.381C>G MANE Select	NP_002486.1:p.Thr127=
NM_001318051.2:c.350+12176C>G	NP_001304980.1:n.350+12176C>G
NR_134473.2:n.577C>G
NR_134474.2:n.494C>G
NR_134475.2:n.529C>G