Canonical Allele Identifier: CA359719221

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954431C>T (hg19) ; chr5:g.53658601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658601C>T , CM000667.2:g.53658601C>T	GRCh38
NC_000005.9:g.52954431C>T , CM000667.1:g.52954431C>T	GRCh37
NC_000005.8:g.52990188C>T	NCBI36
NG_008200.1:g.102967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.401C>T MANE Select	ENSP00000296684.5:p.Ala134Val
ENST00000296684.9:c.401C>T	ENSP00000296684.5:p.Ala134Val
ENST00000502423.5:c.*268C>T	ENSP00000422177.1:n.*268C>T
ENST00000506765.1:c.338+12196C>T	ENSP00000424570.1:n.338+12196C>T
ENST00000506974.5:c.*177C>T	ENSP00000425967.1:n.*177C>T
ENST00000507026.5:c.*375C>T	ENSP00000424993.1:n.*375C>T
ENST00000509443.1:n.262C>T
NM_002495.2:c.401C>T	NP_002486.1:p.Ala134Val
XM_005248525.3:c.350+12196C>T	XP_005248582.1:n.350+12196C>T
XM_011543415.1:c.227C>T	XP_011541717.1:p.Ala76Val
NM_001318051.1:c.350+12196C>T	NP_001304980.1:n.350+12196C>T
NM_002495.3:c.401C>T	NP_002486.1:p.Ala134Val
NR_134473.1:n.603C>T
NR_134474.1:n.520C>T
NR_134475.1:n.555C>T
NM_002495.4:c.401C>T MANE Select	NP_002486.1:p.Ala134Val
NM_001318051.2:c.350+12196C>T	NP_001304980.1:n.350+12196C>T
NR_134473.2:n.597C>T
NR_134474.2:n.514C>T
NR_134475.2:n.549C>T