Canonical Allele Identifier: CA359719689

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942138A>C (hg19) ; chr5:g.53646308A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646308A>C , CM000667.2:g.53646308A>C	GRCh38
NC_000005.9:g.52942138A>C , CM000667.1:g.52942138A>C	GRCh37
NC_000005.8:g.52977895A>C	NCBI36
NG_008200.1:g.90674A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.253A>C MANE Select	ENSP00000296684.5:p.Asn85His
ENST00000296684.9:c.253A>C	ENSP00000296684.5:p.Asn85His
ENST00000502423.5:c.*120A>C	ENSP00000422177.1:n.*120A>C
ENST00000506765.1:c.241A>C	ENSP00000424570.1:p.Asn81His
ENST00000506974.5:c.*29A>C	ENSP00000425967.1:n.*29A>C
ENST00000507026.5:c.*227A>C	ENSP00000424993.1:n.*227A>C
ENST00000509443.1:n.114A>C
NM_002495.2:c.253A>C	NP_002486.1:p.Asn85His
XM_005248525.3:c.253A>C	XP_005248582.1:p.Asn85His
XM_011543415.1:c.79A>C	XP_011541717.1:p.Asn27His
NM_001318051.1:c.253A>C	NP_001304980.1:p.Asn85His
NM_002495.3:c.253A>C	NP_002486.1:p.Asn85His
NR_134473.1:n.455A>C
NR_134474.1:n.372A>C
NR_134475.1:n.407A>C
NM_002495.4:c.253A>C MANE Select	NP_002486.1:p.Asn85His
NM_001318051.2:c.253A>C	NP_001304980.1:p.Asn85His
NR_134473.2:n.449A>C
NR_134474.2:n.366A>C
NR_134475.2:n.401A>C