Canonical Allele Identifier: CA359719261

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954450A>T (hg19) ; chr5:g.53658620A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658620A>T , CM000667.2:g.53658620A>T	GRCh38
NC_000005.9:g.52954450A>T , CM000667.1:g.52954450A>T	GRCh37
NC_000005.8:g.52990207A>T	NCBI36
NG_008200.1:g.102986A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.420A>T MANE Select	ENSP00000296684.5:p.Lys140Asn
ENST00000296684.9:c.420A>T	ENSP00000296684.5:p.Lys140Asn
ENST00000502423.5:c.*287A>T	ENSP00000422177.1:n.*287A>T
ENST00000506765.1:c.338+12215A>T	ENSP00000424570.1:n.338+12215A>T
ENST00000506974.5:c.*196A>T	ENSP00000425967.1:n.*196A>T
ENST00000507026.5:c.*394A>T	ENSP00000424993.1:n.*394A>T
ENST00000509443.1:n.281A>T
NM_002495.2:c.420A>T	NP_002486.1:p.Lys140Asn
XM_005248525.3:c.350+12215A>T	XP_005248582.1:n.350+12215A>T
XM_011543415.1:c.246A>T	XP_011541717.1:p.Lys82Asn
NM_001318051.1:c.350+12215A>T	NP_001304980.1:n.350+12215A>T
NM_002495.3:c.420A>T	NP_002486.1:p.Lys140Asn
NR_134473.1:n.622A>T
NR_134474.1:n.539A>T
NR_134475.1:n.574A>T
NM_002495.4:c.420A>T MANE Select	NP_002486.1:p.Lys140Asn
NM_001318051.2:c.350+12215A>T	NP_001304980.1:n.350+12215A>T
NR_134473.2:n.616A>T
NR_134474.2:n.533A>T
NR_134475.2:n.568A>T