Canonical Allele Identifier: CA359719116

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954383C>T (hg19) ; chr5:g.53658553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658553C>T , CM000667.2:g.53658553C>T	GRCh38
NC_000005.9:g.52954383C>T , CM000667.1:g.52954383C>T	GRCh37
NC_000005.8:g.52990140C>T	NCBI36
NG_008200.1:g.102919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.353C>T MANE Select	ENSP00000296684.5:p.Ala118Val
ENST00000296684.9:c.353C>T	ENSP00000296684.5:p.Ala118Val
ENST00000502423.5:c.*220C>T	ENSP00000422177.1:n.*220C>T
ENST00000506765.1:c.338+12148C>T	ENSP00000424570.1:n.338+12148C>T
ENST00000506974.5:c.*129C>T	ENSP00000425967.1:n.*129C>T
ENST00000507026.5:c.*327C>T	ENSP00000424993.1:n.*327C>T
ENST00000509443.1:n.214C>T
NM_002495.2:c.353C>T	NP_002486.1:p.Ala118Val
XM_005248525.3:c.350+12148C>T	XP_005248582.1:n.350+12148C>T
XM_011543415.1:c.179C>T	XP_011541717.1:p.Ala60Val
NM_001318051.1:c.350+12148C>T	NP_001304980.1:n.350+12148C>T
NM_002495.3:c.353C>T	NP_002486.1:p.Ala118Val
NR_134473.1:n.555C>T
NR_134474.1:n.472C>T
NR_134475.1:n.507C>T
NM_002495.4:c.353C>T MANE Select	NP_002486.1:p.Ala118Val
NM_001318051.2:c.350+12148C>T	NP_001304980.1:n.350+12148C>T
NR_134473.2:n.549C>T
NR_134474.2:n.466C>T
NR_134475.2:n.501C>T