Canonical Allele Identifier: CA444329873

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954435T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658605T>A , CM000667.2:g.53658605T>A	GRCh38
NC_000005.9:g.52954435T>A , CM000667.1:g.52954435T>A	GRCh37
NC_000005.8:g.52990192T>A	NCBI36
NG_008200.1:g.102971T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.405T>A MANE Select	ENSP00000296684.5:p.Val135=
ENST00000296684.9:c.405T>A	ENSP00000296684.5:p.Val135=
ENST00000502423.5:c.*272T>A	ENSP00000422177.1:n.*272T>A
ENST00000506765.1:c.338+12200T>A	ENSP00000424570.1:n.338+12200T>A
ENST00000506974.5:c.*181T>A	ENSP00000425967.1:n.*181T>A
ENST00000507026.5:c.*379T>A	ENSP00000424993.1:n.*379T>A
ENST00000509443.1:n.266T>A
NM_002495.2:c.405T>A	NP_002486.1:p.Val135=
XM_005248525.3:c.350+12200T>A	XP_005248582.1:n.350+12200T>A
XM_011543415.1:c.231T>A	XP_011541717.1:p.Val77=
NM_001318051.1:c.350+12200T>A	NP_001304980.1:n.350+12200T>A
NM_002495.3:c.405T>A	NP_002486.1:p.Val135=
NR_134473.1:n.607T>A
NR_134474.1:n.524T>A
NR_134475.1:n.559T>A
NM_002495.4:c.405T>A MANE Select	NP_002486.1:p.Val135=
NM_001318051.2:c.350+12200T>A	NP_001304980.1:n.350+12200T>A
NR_134473.2:n.601T>A
NR_134474.2:n.518T>A
NR_134475.2:n.553T>A