Canonical Allele Identifier: CA359719579

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942085T>C (hg19) ; chr5:g.53646255T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646255T>C , CM000667.2:g.53646255T>C	GRCh38
NC_000005.9:g.52942085T>C , CM000667.1:g.52942085T>C	GRCh37
NC_000005.8:g.52977842T>C	NCBI36
NG_008200.1:g.90621T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.200T>C MANE Select	ENSP00000296684.5:p.Val67Ala
ENST00000296684.9:c.200T>C	ENSP00000296684.5:p.Val67Ala
ENST00000502423.5:c.*67T>C	ENSP00000422177.1:n.*67T>C
ENST00000506765.1:c.188T>C	ENSP00000424570.1:p.Val63Ala
ENST00000506974.5:c.372T>C	ENSP00000425967.1:p.Ser124=
ENST00000507026.5:c.*174T>C	ENSP00000424993.1:n.*174T>C
ENST00000509443.1:n.61T>C
NM_002495.2:c.200T>C	NP_002486.1:p.Val67Ala
XM_005248525.3:c.200T>C	XP_005248582.1:p.Val67Ala
XM_011543415.1:c.26T>C	XP_011541717.1:p.Val9Ala
NM_001318051.1:c.200T>C	NP_001304980.1:p.Val67Ala
NM_002495.3:c.200T>C	NP_002486.1:p.Val67Ala
NR_134473.1:n.402T>C
NR_134474.1:n.319T>C
NR_134475.1:n.354T>C
NM_002495.4:c.200T>C MANE Select	NP_002486.1:p.Val67Ala
NM_001318051.2:c.200T>C	NP_001304980.1:p.Val67Ala
NR_134473.2:n.396T>C
NR_134474.2:n.313T>C
NR_134475.2:n.348T>C