Canonical Allele Identifier: CA359719691

Gene: NDUFS4

Linked Data

• dbSNP Id: rs2112507463
• MyVariant Identifiers: chr5:g.52942138A>G (hg19) ; chr5:g.53646308A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.253A>G MANE Select	ENSP00000296684.5:p.Asn85Asp
ENST00000296684.9:c.253A>G	ENSP00000296684.5:p.Asn85Asp
ENST00000502423.5:c.*120A>G	ENSP00000422177.1:n.*120A>G
ENST00000506765.1:c.241A>G	ENSP00000424570.1:p.Asn81Asp
ENST00000506974.5:c.*29A>G	ENSP00000425967.1:n.*29A>G
ENST00000507026.5:c.*227A>G	ENSP00000424993.1:n.*227A>G
ENST00000509443.1:n.114A>G
NM_002495.2:c.253A>G	NP_002486.1:p.Asn85Asp
XM_005248525.3:c.253A>G	XP_005248582.1:p.Asn85Asp
XM_011543415.1:c.79A>G	XP_011541717.1:p.Asn27Asp
NM_001318051.1:c.253A>G	NP_001304980.1:p.Asn85Asp
NM_002495.3:c.253A>G	NP_002486.1:p.Asn85Asp
NR_134473.1:n.455A>G
NR_134474.1:n.372A>G
NR_134475.1:n.407A>G
NM_002495.4:c.253A>G MANE Select	NP_002486.1:p.Asn85Asp
NM_001318051.2:c.253A>G	NP_001304980.1:p.Asn85Asp
NR_134473.2:n.449A>G
NR_134474.2:n.366A>G
NR_134475.2:n.401A>G