Canonical Allele Identifier: CA359719587

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942090G>T (hg19) ; chr5:g.53646260G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646260G>T , CM000667.2:g.53646260G>T	GRCh38
NC_000005.9:g.52942090G>T , CM000667.1:g.52942090G>T	GRCh37
NC_000005.8:g.52977847G>T	NCBI36
NG_008200.1:g.90626G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.205G>T MANE Select	ENSP00000296684.5:p.Glu69Ter
ENST00000296684.9:c.205G>T	ENSP00000296684.5:p.Glu69Ter
ENST00000502423.5:c.*72G>T	ENSP00000422177.1:n.*72G>T
ENST00000506765.1:c.193G>T	ENSP00000424570.1:p.Glu65Ter
ENST00000506974.5:c.377G>T	ENSP00000425967.1:p.Arg126Ile
ENST00000507026.5:c.*179G>T	ENSP00000424993.1:n.*179G>T
ENST00000509443.1:n.66G>T
NM_002495.2:c.205G>T	NP_002486.1:p.Glu69Ter
XM_005248525.3:c.205G>T	XP_005248582.1:p.Glu69Ter
XM_011543415.1:c.31G>T	XP_011541717.1:p.Glu11Ter
NM_001318051.1:c.205G>T	NP_001304980.1:p.Glu69Ter
NM_002495.3:c.205G>T	NP_002486.1:p.Glu69Ter
NR_134473.1:n.407G>T
NR_134474.1:n.324G>T
NR_134475.1:n.359G>T
NM_002495.4:c.205G>T MANE Select	NP_002486.1:p.Glu69Ter
NM_001318051.2:c.205G>T	NP_001304980.1:p.Glu69Ter
NR_134473.2:n.401G>T
NR_134474.2:n.318G>T
NR_134475.2:n.353G>T