Canonical Allele Identifier: CA359719206

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954425A>T (hg19) ; chr5:g.53658595A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658595A>T , CM000667.2:g.53658595A>T	GRCh38
NC_000005.9:g.52954425A>T , CM000667.1:g.52954425A>T	GRCh37
NC_000005.8:g.52990182A>T	NCBI36
NG_008200.1:g.102961A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.395A>T MANE Select	ENSP00000296684.5:p.Glu132Val
ENST00000296684.9:c.395A>T	ENSP00000296684.5:p.Glu132Val
ENST00000502423.5:c.*262A>T	ENSP00000422177.1:n.*262A>T
ENST00000506765.1:c.338+12190A>T	ENSP00000424570.1:n.338+12190A>T
ENST00000506974.5:c.*171A>T	ENSP00000425967.1:n.*171A>T
ENST00000507026.5:c.*369A>T	ENSP00000424993.1:n.*369A>T
ENST00000509443.1:n.256A>T
NM_002495.2:c.395A>T	NP_002486.1:p.Glu132Val
XM_005248525.3:c.350+12190A>T	XP_005248582.1:n.350+12190A>T
XM_011543415.1:c.221A>T	XP_011541717.1:p.Glu74Val
NM_001318051.1:c.350+12190A>T	NP_001304980.1:n.350+12190A>T
NM_002495.3:c.395A>T	NP_002486.1:p.Glu132Val
NR_134473.1:n.597A>T
NR_134474.1:n.514A>T
NR_134475.1:n.549A>T
NM_002495.4:c.395A>T MANE Select	NP_002486.1:p.Glu132Val
NM_001318051.2:c.350+12190A>T	NP_001304980.1:n.350+12190A>T
NR_134473.2:n.591A>T
NR_134474.2:n.508A>T
NR_134475.2:n.543A>T