Canonical Allele Identifier: CA381569935

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803989T>A (hg19) ; chr11:g.68036522T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036522T>A , CM000673.2:g.68036522T>A	GRCh38
NC_000011.9:g.67803989T>A , CM000673.1:g.67803989T>A	GRCh37
NC_000011.8:g.67560565T>A	NCBI36
NG_007878.1:g.2507T>A , LRG_115:g.2507T>A
NG_017040.1:g.10906T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.562T>A MANE Select	ENSP00000315774.5:p.Leu188Met
ENST00000313468.9:c.562T>A	ENSP00000315774.5:p.Leu188Met
ENST00000524810.5:c.494T>A
ENST00000526446.5:c.*617T>A	ENSP00000433645.1:n.*617T>A
ENST00000528492.1:c.124T>A	ENSP00000432848.1:p.Leu42Met
ENST00000531282.1:n.414T>A
NM_002496.3:c.562T>A	NP_002487.1:p.Leu188Met
XM_005274013.1:c.562T>A	XP_005274070.1:p.Leu188Met
XM_005274014.1:c.562T>A	XP_005274071.1:p.Leu188Met
XM_005274015.1:c.442T>A	XP_005274072.1:p.Leu148Met
XM_011545053.1:c.562T>A	XP_011543355.1:p.Leu188Met
NM_002496.4:c.562T>A MANE Select	NP_002487.1:p.Leu188Met