Canonical Allele Identifier: CA359719132

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954392T>A (hg19) ; chr5:g.53658562T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658562T>A , CM000667.2:g.53658562T>A	GRCh38
NC_000005.9:g.52954392T>A , CM000667.1:g.52954392T>A	GRCh37
NC_000005.8:g.52990149T>A	NCBI36
NG_008200.1:g.102928T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.362T>A MANE Select	ENSP00000296684.5:p.Leu121Ter
ENST00000296684.9:c.362T>A	ENSP00000296684.5:p.Leu121Ter
ENST00000502423.5:c.*229T>A	ENSP00000422177.1:n.*229T>A
ENST00000506765.1:c.338+12157T>A	ENSP00000424570.1:n.338+12157T>A
ENST00000506974.5:c.*138T>A	ENSP00000425967.1:n.*138T>A
ENST00000507026.5:c.*336T>A	ENSP00000424993.1:n.*336T>A
ENST00000509443.1:n.223T>A
NM_002495.2:c.362T>A	NP_002486.1:p.Leu121Ter
XM_005248525.3:c.350+12157T>A	XP_005248582.1:n.350+12157T>A
XM_011543415.1:c.188T>A	XP_011541717.1:p.Leu63Ter
NM_001318051.1:c.350+12157T>A	NP_001304980.1:n.350+12157T>A
NM_002495.3:c.362T>A	NP_002486.1:p.Leu121Ter
NR_134473.1:n.564T>A
NR_134474.1:n.481T>A
NR_134475.1:n.516T>A
NM_002495.4:c.362T>A MANE Select	NP_002486.1:p.Leu121Ter
NM_001318051.2:c.350+12157T>A	NP_001304980.1:n.350+12157T>A
NR_134473.2:n.558T>A
NR_134474.2:n.475T>A
NR_134475.2:n.510T>A