Canonical Allele Identifier: CA381570363

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68036566-C-A
• MyVariant Identifiers: chr11:g.67804033C>A (hg19) ; chr11:g.68036566C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036566C>A , CM000673.2:g.68036566C>A	GRCh38
NC_000011.9:g.67804033C>A , CM000673.1:g.67804033C>A	GRCh37
NC_000011.8:g.67560609C>A	NCBI36
NG_007878.1:g.2551C>A , LRG_115:g.2551C>A
NG_017040.1:g.10950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.606C>A MANE Select	ENSP00000315774.5:p.Asn202Lys
ENST00000313468.9:c.606C>A	ENSP00000315774.5:p.Asn202Lys
ENST00000524810.5:c.538C>A
ENST00000528492.1:c.168C>A	ENSP00000432848.1:p.Asn56Lys
ENST00000531282.1:n.458C>A
NM_002496.3:c.606C>A	NP_002487.1:p.Asn202Lys
XM_005274013.1:c.606C>A	XP_005274070.1:p.Asn202Lys
XM_005274014.1:c.606C>A	XP_005274071.1:p.Asn202Lys
XM_005274015.1:c.486C>A	XP_005274072.1:p.Asn162Lys
XM_011545053.1:c.606C>A	XP_011543355.1:p.Asn202Lys
NM_002496.4:c.606C>A MANE Select	NP_002487.1:p.Asn202Lys