Canonical Allele Identifier: CA444330334

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942107T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646277T>A , CM000667.2:g.53646277T>A	GRCh38
NC_000005.9:g.52942107T>A , CM000667.1:g.52942107T>A	GRCh37
NC_000005.8:g.52977864T>A	NCBI36
NG_008200.1:g.90643T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.222T>A MANE Select	ENSP00000296684.5:p.Thr74=
ENST00000296684.9:c.222T>A	ENSP00000296684.5:p.Thr74=
ENST00000502423.5:c.*89T>A	ENSP00000422177.1:n.*89T>A
ENST00000506765.1:c.210T>A	ENSP00000424570.1:p.Thr70=
ENST00000506974.5:c.394T>A	ENSP00000425967.1:p.Ter132Lys
ENST00000507026.5:c.*196T>A	ENSP00000424993.1:n.*196T>A
ENST00000509443.1:n.83T>A
NM_002495.2:c.222T>A	NP_002486.1:p.Thr74=
XM_005248525.3:c.222T>A	XP_005248582.1:p.Thr74=
XM_011543415.1:c.48T>A	XP_011541717.1:p.Thr16=
NM_001318051.1:c.222T>A	NP_001304980.1:p.Thr74=
NM_002495.3:c.222T>A	NP_002486.1:p.Thr74=
NR_134473.1:n.424T>A
NR_134474.1:n.341T>A
NR_134475.1:n.376T>A
NM_002495.4:c.222T>A MANE Select	NP_002486.1:p.Thr74=
NM_001318051.2:c.222T>A	NP_001304980.1:p.Thr74=
NR_134473.2:n.418T>A
NR_134474.2:n.335T>A
NR_134475.2:n.370T>A