Canonical Allele Identifier: CA359719616

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942103A>C (hg19) ; chr5:g.53646273A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646273A>C , CM000667.2:g.53646273A>C	GRCh38
NC_000005.9:g.52942103A>C , CM000667.1:g.52942103A>C	GRCh37
NC_000005.8:g.52977860A>C	NCBI36
NG_008200.1:g.90639A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.218A>C MANE Select	ENSP00000296684.5:p.Lys73Thr
ENST00000296684.9:c.218A>C	ENSP00000296684.5:p.Lys73Thr
ENST00000502423.5:c.*85A>C	ENSP00000422177.1:n.*85A>C
ENST00000506765.1:c.206A>C	ENSP00000424570.1:p.Lys69Thr
ENST00000506974.5:c.390A>C	ENSP00000425967.1:p.Lys130Asn
ENST00000507026.5:c.*192A>C	ENSP00000424993.1:n.*192A>C
ENST00000509443.1:n.79A>C
NM_002495.2:c.218A>C	NP_002486.1:p.Lys73Thr
XM_005248525.3:c.218A>C	XP_005248582.1:p.Lys73Thr
XM_011543415.1:c.44A>C	XP_011541717.1:p.Lys15Thr
NM_001318051.1:c.218A>C	NP_001304980.1:p.Lys73Thr
NM_002495.3:c.218A>C	NP_002486.1:p.Lys73Thr
NR_134473.1:n.420A>C
NR_134474.1:n.337A>C
NR_134475.1:n.372A>C
NM_002495.4:c.218A>C MANE Select	NP_002486.1:p.Lys73Thr
NM_001318051.2:c.218A>C	NP_001304980.1:p.Lys73Thr
NR_134473.2:n.414A>C
NR_134474.2:n.331A>C
NR_134475.2:n.366A>C