Canonical Allele Identifier: CA359719568

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942079C>T (hg19) ; chr5:g.53646249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646249C>T , CM000667.2:g.53646249C>T	GRCh38
NC_000005.9:g.52942079C>T , CM000667.1:g.52942079C>T	GRCh37
NC_000005.8:g.52977836C>T	NCBI36
NG_008200.1:g.90615C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.194C>T MANE Select	ENSP00000296684.5:p.Thr65Ile
ENST00000296684.9:c.194C>T	ENSP00000296684.5:p.Thr65Ile
ENST00000502423.5:c.*61C>T	ENSP00000422177.1:n.*61C>T
ENST00000506765.1:c.182C>T	ENSP00000424570.1:p.Thr61Ile
ENST00000506974.5:c.366C>T	ENSP00000425967.1:p.Asn122=
ENST00000507026.5:c.*168C>T	ENSP00000424993.1:n.*168C>T
ENST00000509443.1:n.55C>T
NM_002495.2:c.194C>T	NP_002486.1:p.Thr65Ile
XM_005248525.3:c.194C>T	XP_005248582.1:p.Thr65Ile
XM_011543415.1:c.20C>T	XP_011541717.1:p.Thr7Ile
NM_001318051.1:c.194C>T	NP_001304980.1:p.Thr65Ile
NM_002495.3:c.194C>T	NP_002486.1:p.Thr65Ile
NR_134473.1:n.396C>T
NR_134474.1:n.313C>T
NR_134475.1:n.348C>T
NM_002495.4:c.194C>T MANE Select	NP_002486.1:p.Thr65Ile
NM_001318051.2:c.194C>T	NP_001304980.1:p.Thr65Ile
NR_134473.2:n.390C>T
NR_134474.2:n.307C>T
NR_134475.2:n.342C>T