Canonical Allele Identifier: CA359719612

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942100T>C (hg19) ; chr5:g.53646270T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646270T>C , CM000667.2:g.53646270T>C	GRCh38
NC_000005.9:g.52942100T>C , CM000667.1:g.52942100T>C	GRCh37
NC_000005.8:g.52977857T>C	NCBI36
NG_008200.1:g.90636T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.215T>C MANE Select	ENSP00000296684.5:p.Ile72Thr
ENST00000296684.9:c.215T>C	ENSP00000296684.5:p.Ile72Thr
ENST00000502423.5:c.*82T>C	ENSP00000422177.1:n.*82T>C
ENST00000506765.1:c.203T>C	ENSP00000424570.1:p.Ile68Thr
ENST00000506974.5:c.387T>C	ENSP00000425967.1:p.Tyr129=
ENST00000507026.5:c.*189T>C	ENSP00000424993.1:n.*189T>C
ENST00000509443.1:n.76T>C
NM_002495.2:c.215T>C	NP_002486.1:p.Ile72Thr
XM_005248525.3:c.215T>C	XP_005248582.1:p.Ile72Thr
XM_011543415.1:c.41T>C	XP_011541717.1:p.Ile14Thr
NM_001318051.1:c.215T>C	NP_001304980.1:p.Ile72Thr
NM_002495.3:c.215T>C	NP_002486.1:p.Ile72Thr
NR_134473.1:n.417T>C
NR_134474.1:n.334T>C
NR_134475.1:n.369T>C
NM_002495.4:c.215T>C MANE Select	NP_002486.1:p.Ile72Thr
NM_001318051.2:c.215T>C	NP_001304980.1:p.Ile72Thr
NR_134473.2:n.411T>C
NR_134474.2:n.328T>C
NR_134475.2:n.363T>C