Canonical Allele Identifier: CA359719608

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942099A>C (hg19) ; chr5:g.53646269A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646269A>C , CM000667.2:g.53646269A>C	GRCh38
NC_000005.9:g.52942099A>C , CM000667.1:g.52942099A>C	GRCh37
NC_000005.8:g.52977856A>C	NCBI36
NG_008200.1:g.90635A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.214A>C MANE Select	ENSP00000296684.5:p.Ile72Leu
ENST00000296684.9:c.214A>C	ENSP00000296684.5:p.Ile72Leu
ENST00000502423.5:c.*81A>C	ENSP00000422177.1:n.*81A>C
ENST00000506765.1:c.202A>C	ENSP00000424570.1:p.Ile68Leu
ENST00000506974.5:c.386A>C	ENSP00000425967.1:p.Tyr129Ser
ENST00000507026.5:c.*188A>C	ENSP00000424993.1:n.*188A>C
ENST00000509443.1:n.75A>C
NM_002495.2:c.214A>C	NP_002486.1:p.Ile72Leu
XM_005248525.3:c.214A>C	XP_005248582.1:p.Ile72Leu
XM_011543415.1:c.40A>C	XP_011541717.1:p.Ile14Leu
NM_001318051.1:c.214A>C	NP_001304980.1:p.Ile72Leu
NM_002495.3:c.214A>C	NP_002486.1:p.Ile72Leu
NR_134473.1:n.416A>C
NR_134474.1:n.333A>C
NR_134475.1:n.368A>C
NM_002495.4:c.214A>C MANE Select	NP_002486.1:p.Ile72Leu
NM_001318051.2:c.214A>C	NP_001304980.1:p.Ile72Leu
NR_134473.2:n.410A>C
NR_134474.2:n.327A>C
NR_134475.2:n.362A>C