Canonical Allele Identifier: CA359719630

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942109G>T (hg19) ; chr5:g.53646279G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646279G>T , CM000667.2:g.53646279G>T	GRCh38
NC_000005.9:g.52942109G>T , CM000667.1:g.52942109G>T	GRCh37
NC_000005.8:g.52977866G>T	NCBI36
NG_008200.1:g.90645G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.224G>T MANE Select	ENSP00000296684.5:p.Arg75Ile
ENST00000296684.9:c.224G>T	ENSP00000296684.5:p.Arg75Ile
ENST00000502423.5:c.*91G>T	ENSP00000422177.1:n.*91G>T
ENST00000506765.1:c.212G>T	ENSP00000424570.1:p.Arg71Ile
ENST00000506974.5:c.396G>T	ENSP00000425967.1:p.Ter132Tyr
ENST00000507026.5:c.*198G>T	ENSP00000424993.1:n.*198G>T
ENST00000509443.1:n.85G>T
NM_002495.2:c.224G>T	NP_002486.1:p.Arg75Ile
XM_005248525.3:c.224G>T	XP_005248582.1:p.Arg75Ile
XM_011543415.1:c.50G>T	XP_011541717.1:p.Arg17Ile
NM_001318051.1:c.224G>T	NP_001304980.1:p.Arg75Ile
NM_002495.3:c.224G>T	NP_002486.1:p.Arg75Ile
NR_134473.1:n.426G>T
NR_134474.1:n.343G>T
NR_134475.1:n.378G>T
NM_002495.4:c.224G>T MANE Select	NP_002486.1:p.Arg75Ile
NM_001318051.2:c.224G>T	NP_001304980.1:p.Arg75Ile
NR_134473.2:n.420G>T
NR_134474.2:n.337G>T
NR_134475.2:n.372G>T