Canonical Allele Identifier: CA359719664

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942124T>A (hg19) ; chr5:g.53646294T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646294T>A , CM000667.2:g.53646294T>A	GRCh38
NC_000005.9:g.52942124T>A , CM000667.1:g.52942124T>A	GRCh37
NC_000005.8:g.52977881T>A	NCBI36
NG_008200.1:g.90660T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.239T>A MANE Select	ENSP00000296684.5:p.Phe80Tyr
ENST00000296684.9:c.239T>A	ENSP00000296684.5:p.Phe80Tyr
ENST00000502423.5:c.*106T>A	ENSP00000422177.1:n.*106T>A
ENST00000506765.1:c.227T>A	ENSP00000424570.1:p.Phe76Tyr
ENST00000506974.5:c.*15T>A	ENSP00000425967.1:n.*15T>A
ENST00000507026.5:c.*213T>A	ENSP00000424993.1:n.*213T>A
ENST00000509443.1:n.100T>A
NM_002495.2:c.239T>A	NP_002486.1:p.Phe80Tyr
XM_005248525.3:c.239T>A	XP_005248582.1:p.Phe80Tyr
XM_011543415.1:c.65T>A	XP_011541717.1:p.Phe22Tyr
NM_001318051.1:c.239T>A	NP_001304980.1:p.Phe80Tyr
NM_002495.3:c.239T>A	NP_002486.1:p.Phe80Tyr
NR_134473.1:n.441T>A
NR_134474.1:n.358T>A
NR_134475.1:n.393T>A
NM_002495.4:c.239T>A MANE Select	NP_002486.1:p.Phe80Tyr
NM_001318051.2:c.239T>A	NP_001304980.1:p.Phe80Tyr
NR_134473.2:n.435T>A
NR_134474.2:n.352T>A
NR_134475.2:n.387T>A