Canonical Allele Identifier: CA6146387

Gene: NDUFS8

Linked Data

• dbSNP Id: rs752421550
• ExAC: 11:67800414 A / G
• gnomAD v2: 11-67800414-A-G
• gnomAD v4: 11-68032947-A-G
• MyVariant Identifiers: chr11:g.67800414A>G (hg19) ; chr11:g.68032947A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68032947A>G , CM000673.2:g.68032947A>G	GRCh38
NC_000011.9:g.67800414A>G , CM000673.1:g.67800414A>G	GRCh37
NC_000011.8:g.67556990A>G	NCBI36
NG_017040.1:g.7331A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.134A>G MANE Select	ENSP00000315774.5:p.Glu45Gly
ENST00000313468.9:c.134A>G	ENSP00000315774.5:p.Glu45Gly
ENST00000432321.6:n.251A>G
ENST00000453471.6:c.134A>G	ENSP00000403972.2:p.Glu45Gly
ENST00000525419.5:c.80A>G	ENSP00000433521.1:p.Glu27Gly
ENST00000525628.1:c.134A>G	ENSP00000432968.1:p.Glu45Gly
ENST00000526339.5:c.134A>G	ENSP00000436287.1:p.Glu45Gly
ENST00000526446.5:c.*189A>G	ENSP00000433645.1:n.*189A>G
ENST00000528492.1:c.-67+2214A>G	ENSP00000432848.1:n.-67+2214A>G
ENST00000529645.1:c.312A>G	ENSP00000431293.1:n.312A>G
ENST00000531228.1:c.189A>G	ENSP00000433054.1:p.Arg63=
ENST00000532399.1:n.741A>G
NM_002496.3:c.134A>G	NP_002487.1:p.Glu45Gly
XM_005274013.1:c.134A>G	XP_005274070.1:p.Glu45Gly
XM_005274014.1:c.134A>G	XP_005274071.1:p.Glu45Gly
XM_005274015.1:c.14A>G	XP_005274072.1:p.Glu5Gly
XM_011545053.1:c.134A>G	XP_011543355.1:p.Glu45Gly
NM_002496.4:c.134A>G MANE Select	NP_002487.1:p.Glu45Gly