Canonical Allele Identifier: CA444330327

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942089A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646259A>T , CM000667.2:g.53646259A>T	GRCh38
NC_000005.9:g.52942089A>T , CM000667.1:g.52942089A>T	GRCh37
NC_000005.8:g.52977846A>T	NCBI36
NG_008200.1:g.90625A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.204A>T MANE Select	ENSP00000296684.5:p.Pro68=
ENST00000296684.9:c.204A>T	ENSP00000296684.5:p.Pro68=
ENST00000502423.5:c.*71A>T	ENSP00000422177.1:n.*71A>T
ENST00000506765.1:c.192A>T	ENSP00000424570.1:p.Pro64=
ENST00000506974.5:c.376A>T	ENSP00000425967.1:p.Arg126Ter
ENST00000507026.5:c.*178A>T	ENSP00000424993.1:n.*178A>T
ENST00000509443.1:n.65A>T
NM_002495.2:c.204A>T	NP_002486.1:p.Pro68=
XM_005248525.3:c.204A>T	XP_005248582.1:p.Pro68=
XM_011543415.1:c.30A>T	XP_011541717.1:p.Pro10=
NM_001318051.1:c.204A>T	NP_001304980.1:p.Pro68=
NM_002495.3:c.204A>T	NP_002486.1:p.Pro68=
NR_134473.1:n.406A>T
NR_134474.1:n.323A>T
NR_134475.1:n.358A>T
NM_002495.4:c.204A>T MANE Select	NP_002486.1:p.Pro68=
NM_001318051.2:c.204A>T	NP_001304980.1:p.Pro68=
NR_134473.2:n.400A>T
NR_134474.2:n.317A>T
NR_134475.2:n.352A>T