Canonical Allele Identifier: CA359719112

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954382G>C (hg19) ; chr5:g.53658552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658552G>C , CM000667.2:g.53658552G>C	GRCh38
NC_000005.9:g.52954382G>C , CM000667.1:g.52954382G>C	GRCh37
NC_000005.8:g.52990139G>C	NCBI36
NG_008200.1:g.102918G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.352G>C MANE Select	ENSP00000296684.5:p.Ala118Pro
ENST00000296684.9:c.352G>C	ENSP00000296684.5:p.Ala118Pro
ENST00000502423.5:c.*219G>C	ENSP00000422177.1:n.*219G>C
ENST00000506765.1:c.338+12147G>C	ENSP00000424570.1:n.338+12147G>C
ENST00000506974.5:c.*128G>C	ENSP00000425967.1:n.*128G>C
ENST00000507026.5:c.*326G>C	ENSP00000424993.1:n.*326G>C
ENST00000509443.1:n.213G>C
NM_002495.2:c.352G>C	NP_002486.1:p.Ala118Pro
XM_005248525.3:c.350+12147G>C	XP_005248582.1:n.350+12147G>C
XM_011543415.1:c.178G>C	XP_011541717.1:p.Ala60Pro
NM_001318051.1:c.350+12147G>C	NP_001304980.1:n.350+12147G>C
NM_002495.3:c.352G>C	NP_002486.1:p.Ala118Pro
NR_134473.1:n.554G>C
NR_134474.1:n.471G>C
NR_134475.1:n.506G>C
NM_002495.4:c.352G>C MANE Select	NP_002486.1:p.Ala118Pro
NM_001318051.2:c.350+12147G>C	NP_001304980.1:n.350+12147G>C
NR_134473.2:n.548G>C
NR_134474.2:n.465G>C
NR_134475.2:n.500G>C