Canonical Allele Identifier: CA444329852

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954396C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658566C>G , CM000667.2:g.53658566C>G	GRCh38
NC_000005.9:g.52954396C>G , CM000667.1:g.52954396C>G	GRCh37
NC_000005.8:g.52990153C>G	NCBI36
NG_008200.1:g.102932C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.366C>G MANE Select	ENSP00000296684.5:p.Ser122=
ENST00000296684.9:c.366C>G	ENSP00000296684.5:p.Ser122=
ENST00000502423.5:c.*233C>G	ENSP00000422177.1:n.*233C>G
ENST00000506765.1:c.338+12161C>G	ENSP00000424570.1:n.338+12161C>G
ENST00000506974.5:c.*142C>G	ENSP00000425967.1:n.*142C>G
ENST00000507026.5:c.*340C>G	ENSP00000424993.1:n.*340C>G
ENST00000509443.1:n.227C>G
NM_002495.2:c.366C>G	NP_002486.1:p.Ser122=
XM_005248525.3:c.350+12161C>G	XP_005248582.1:n.350+12161C>G
XM_011543415.1:c.192C>G	XP_011541717.1:p.Ser64=
NM_001318051.1:c.350+12161C>G	NP_001304980.1:n.350+12161C>G
NM_002495.3:c.366C>G	NP_002486.1:p.Ser122=
NR_134473.1:n.568C>G
NR_134474.1:n.485C>G
NR_134475.1:n.520C>G
NM_002495.4:c.366C>G MANE Select	NP_002486.1:p.Ser122=
NM_001318051.2:c.350+12161C>G	NP_001304980.1:n.350+12161C>G
NR_134473.2:n.562C>G
NR_134474.2:n.479C>G
NR_134475.2:n.514C>G