Canonical Allele Identifier: CA359719840

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942202G>C (hg19) ; chr5:g.53646372G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646372G>C , CM000667.2:g.53646372G>C	GRCh38
NC_000005.9:g.52942202G>C , CM000667.1:g.52942202G>C	GRCh37
NC_000005.8:g.52977959G>C	NCBI36
NG_008200.1:g.90738G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296684.10:c.317G>C MANE Select	ENSP00000296684.5:p.Arg106Pro
ENST00000296684.9:c.317G>C	ENSP00000296684.5:p.Arg106Pro
ENST00000502423.5:c.*184G>C	ENSP00000422177.1:n.*184G>C
ENST00000506765.1:c.305G>C	ENSP00000424570.1:p.Arg102Pro
ENST00000506974.5:c.*93G>C	ENSP00000425967.1:n.*93G>C
ENST00000507026.5:c.*291G>C	ENSP00000424993.1:n.*291G>C
ENST00000509443.1:n.178G>C
NM_002495.2:c.317G>C	NP_002486.1:p.Arg106Pro
XM_005248525.3:c.317G>C	XP_005248582.1:p.Arg106Pro
XM_011543415.1:c.143G>C	XP_011541717.1:p.Arg48Pro
NM_001318051.1:c.317G>C	NP_001304980.1:p.Arg106Pro
NM_002495.3:c.317G>C	NP_002486.1:p.Arg106Pro
NR_134473.1:n.519G>C
NR_134474.1:n.436G>C
NR_134475.1:n.471G>C
NM_002495.4:c.317G>C MANE Select	NP_002486.1:p.Arg106Pro
NM_001318051.2:c.317G>C	NP_001304980.1:p.Arg106Pro
NR_134473.2:n.513G>C
NR_134474.2:n.430G>C
NR_134475.2:n.465G>C