Canonical Allele Identifier: CA444329881

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954444A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658614A>C , CM000667.2:g.53658614A>C	GRCh38
NC_000005.9:g.52954444A>C , CM000667.1:g.52954444A>C	GRCh37
NC_000005.8:g.52990201A>C	NCBI36
NG_008200.1:g.102980A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.414A>C MANE Select	ENSP00000296684.5:p.Ala138=
ENST00000296684.9:c.414A>C	ENSP00000296684.5:p.Ala138=
ENST00000502423.5:c.*281A>C	ENSP00000422177.1:n.*281A>C
ENST00000506765.1:c.338+12209A>C	ENSP00000424570.1:n.338+12209A>C
ENST00000506974.5:c.*190A>C	ENSP00000425967.1:n.*190A>C
ENST00000507026.5:c.*388A>C	ENSP00000424993.1:n.*388A>C
ENST00000509443.1:n.275A>C
NM_002495.2:c.414A>C	NP_002486.1:p.Ala138=
XM_005248525.3:c.350+12209A>C	XP_005248582.1:n.350+12209A>C
XM_011543415.1:c.240A>C	XP_011541717.1:p.Ala80=
NM_001318051.1:c.350+12209A>C	NP_001304980.1:n.350+12209A>C
NM_002495.3:c.414A>C	NP_002486.1:p.Ala138=
NR_134473.1:n.616A>C
NR_134474.1:n.533A>C
NR_134475.1:n.568A>C
NM_002495.4:c.414A>C MANE Select	NP_002486.1:p.Ala138=
NM_001318051.2:c.350+12209A>C	NP_001304980.1:n.350+12209A>C
NR_134473.2:n.610A>C
NR_134474.2:n.527A>C
NR_134475.2:n.562A>C