Canonical Allele Identifier: CA381569916

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68036519-A-G
• MyVariant Identifiers: chr11:g.67803986A>G (hg19) ; chr11:g.68036519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036519A>G , CM000673.2:g.68036519A>G	GRCh38
NC_000011.9:g.67803986A>G , CM000673.1:g.67803986A>G	GRCh37
NC_000011.8:g.67560562A>G	NCBI36
NG_007878.1:g.2504A>G , LRG_115:g.2504A>G
NG_017040.1:g.10903A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.559A>G MANE Select	ENSP00000315774.5:p.Lys187Glu
ENST00000313468.9:c.559A>G	ENSP00000315774.5:p.Lys187Glu
ENST00000524810.5:c.491A>G
ENST00000526446.5:c.*614A>G	ENSP00000433645.1:n.*614A>G
ENST00000528492.1:c.121A>G	ENSP00000432848.1:p.Lys41Glu
ENST00000531282.1:n.411A>G
NM_002496.3:c.559A>G	NP_002487.1:p.Lys187Glu
XM_005274013.1:c.559A>G	XP_005274070.1:p.Lys187Glu
XM_005274014.1:c.559A>G	XP_005274071.1:p.Lys187Glu
XM_005274015.1:c.439A>G	XP_005274072.1:p.Lys147Glu
XM_011545053.1:c.559A>G	XP_011543355.1:p.Lys187Glu
NM_002496.4:c.559A>G MANE Select	NP_002487.1:p.Lys187Glu