Canonical Allele Identifier: CA359719544

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1579914257
• MyVariant Identifiers: chr5:g.52942067T>C (hg19) ; chr5:g.53646237T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646237T>C , CM000667.2:g.53646237T>C	GRCh38
NC_000005.9:g.52942067T>C , CM000667.1:g.52942067T>C	GRCh37
NC_000005.8:g.52977824T>C	NCBI36
NG_008200.1:g.90603T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.182T>C MANE Select	ENSP00000296684.5:p.Ile61Thr
ENST00000296684.9:c.182T>C	ENSP00000296684.5:p.Ile61Thr
ENST00000502423.5:c.*49T>C	ENSP00000422177.1:n.*49T>C
ENST00000506765.1:c.170T>C	ENSP00000424570.1:p.Ile57Thr
ENST00000506974.5:c.354T>C	ENSP00000425967.1:p.Tyr118=
ENST00000507026.5:c.*156T>C	ENSP00000424993.1:n.*156T>C
ENST00000509443.1:n.43T>C
NM_002495.2:c.182T>C	NP_002486.1:p.Ile61Thr
XM_005248525.3:c.182T>C	XP_005248582.1:p.Ile61Thr
XM_011543415.1:c.8T>C	XP_011541717.1:p.Ile3Thr
NM_001318051.1:c.182T>C	NP_001304980.1:p.Ile61Thr
NM_002495.3:c.182T>C	NP_002486.1:p.Ile61Thr
NR_134473.1:n.384T>C
NR_134474.1:n.301T>C
NR_134475.1:n.336T>C
NM_002495.4:c.182T>C MANE Select	NP_002486.1:p.Ile61Thr
NM_001318051.2:c.182T>C	NP_001304980.1:p.Ile61Thr
NR_134473.2:n.378T>C
NR_134474.2:n.295T>C
NR_134475.2:n.330T>C