Canonical Allele Identifier: CA359719615

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942102A>T (hg19) ; chr5:g.53646272A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646272A>T , CM000667.2:g.53646272A>T	GRCh38
NC_000005.9:g.52942102A>T , CM000667.1:g.52942102A>T	GRCh37
NC_000005.8:g.52977859A>T	NCBI36
NG_008200.1:g.90638A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.217A>T MANE Select	ENSP00000296684.5:p.Lys73Ter
ENST00000296684.9:c.217A>T	ENSP00000296684.5:p.Lys73Ter
ENST00000502423.5:c.*84A>T	ENSP00000422177.1:n.*84A>T
ENST00000506765.1:c.205A>T	ENSP00000424570.1:p.Lys69Ter
ENST00000506974.5:c.389A>T	ENSP00000425967.1:p.Lys130Ile
ENST00000507026.5:c.*191A>T	ENSP00000424993.1:n.*191A>T
ENST00000509443.1:n.78A>T
NM_002495.2:c.217A>T	NP_002486.1:p.Lys73Ter
XM_005248525.3:c.217A>T	XP_005248582.1:p.Lys73Ter
XM_011543415.1:c.43A>T	XP_011541717.1:p.Lys15Ter
NM_001318051.1:c.217A>T	NP_001304980.1:p.Lys73Ter
NM_002495.3:c.217A>T	NP_002486.1:p.Lys73Ter
NR_134473.1:n.419A>T
NR_134474.1:n.336A>T
NR_134475.1:n.371A>T
NM_002495.4:c.217A>T MANE Select	NP_002486.1:p.Lys73Ter
NM_001318051.2:c.217A>T	NP_001304980.1:p.Lys73Ter
NR_134473.2:n.413A>T
NR_134474.2:n.330A>T
NR_134475.2:n.365A>T