Canonical Allele Identifier: CA359719558

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942075T>A (hg19) ; chr5:g.53646245T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646245T>A , CM000667.2:g.53646245T>A	GRCh38
NC_000005.9:g.52942075T>A , CM000667.1:g.52942075T>A	GRCh37
NC_000005.8:g.52977832T>A	NCBI36
NG_008200.1:g.90611T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.190T>A MANE Select	ENSP00000296684.5:p.Leu64Ile
ENST00000296684.9:c.190T>A	ENSP00000296684.5:p.Leu64Ile
ENST00000502423.5:c.*57T>A	ENSP00000422177.1:n.*57T>A
ENST00000506765.1:c.178T>A	ENSP00000424570.1:p.Leu60Ile
ENST00000506974.5:c.362T>A	ENSP00000425967.1:p.Phe121Tyr
ENST00000507026.5:c.*164T>A	ENSP00000424993.1:n.*164T>A
ENST00000509443.1:n.51T>A
NM_002495.2:c.190T>A	NP_002486.1:p.Leu64Ile
XM_005248525.3:c.190T>A	XP_005248582.1:p.Leu64Ile
XM_011543415.1:c.16T>A	XP_011541717.1:p.Leu6Ile
NM_001318051.1:c.190T>A	NP_001304980.1:p.Leu64Ile
NM_002495.3:c.190T>A	NP_002486.1:p.Leu64Ile
NR_134473.1:n.392T>A
NR_134474.1:n.309T>A
NR_134475.1:n.344T>A
NM_002495.4:c.190T>A MANE Select	NP_002486.1:p.Leu64Ile
NM_001318051.2:c.190T>A	NP_001304980.1:p.Leu64Ile
NR_134473.2:n.386T>A
NR_134474.2:n.303T>A
NR_134475.2:n.338T>A