Canonical Allele Identifier: CA359719191

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954419C>A (hg19) ; chr5:g.53658589C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658589C>A , CM000667.2:g.53658589C>A	GRCh38
NC_000005.9:g.52954419C>A , CM000667.1:g.52954419C>A	GRCh37
NC_000005.8:g.52990176C>A	NCBI36
NG_008200.1:g.102955C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.389C>A MANE Select	ENSP00000296684.5:p.Thr130Asn
ENST00000296684.9:c.389C>A	ENSP00000296684.5:p.Thr130Asn
ENST00000502423.5:c.*256C>A	ENSP00000422177.1:n.*256C>A
ENST00000506765.1:c.338+12184C>A	ENSP00000424570.1:n.338+12184C>A
ENST00000506974.5:c.*165C>A	ENSP00000425967.1:n.*165C>A
ENST00000507026.5:c.*363C>A	ENSP00000424993.1:n.*363C>A
ENST00000509443.1:n.250C>A
NM_002495.2:c.389C>A	NP_002486.1:p.Thr130Asn
XM_005248525.3:c.350+12184C>A	XP_005248582.1:n.350+12184C>A
XM_011543415.1:c.215C>A	XP_011541717.1:p.Thr72Asn
NM_001318051.1:c.350+12184C>A	NP_001304980.1:n.350+12184C>A
NM_002495.3:c.389C>A	NP_002486.1:p.Thr130Asn
NR_134473.1:n.591C>A
NR_134474.1:n.508C>A
NR_134475.1:n.543C>A
NM_002495.4:c.389C>A MANE Select	NP_002486.1:p.Thr130Asn
NM_001318051.2:c.350+12184C>A	NP_001304980.1:n.350+12184C>A
NR_134473.2:n.585C>A
NR_134474.2:n.502C>A
NR_134475.2:n.537C>A