Canonical Allele Identifier: CA6146589

Gene: NDUFS8

Linked Data

• dbSNP Id: rs776227703
• ExAC: 11:67804075 G / A
• gnomAD v2: 11-67804075-G-A
• gnomAD v3: 11-68036608-G-A
• gnomAD v4: 11-68036608-G-A
• MyVariant Identifiers: chr11:g.67804075G>A (hg19) ; chr11:g.68036608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036608G>A , CM000673.2:g.68036608G>A	GRCh38
NC_000011.9:g.67804075G>A , CM000673.1:g.67804075G>A	GRCh37
NC_000011.8:g.67560651G>A	NCBI36
NG_007878.1:g.2593G>A , LRG_115:g.2593G>A
NG_017040.1:g.10992G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.*15G>A MANE Select	ENSP00000315774.5:n.*15G>A
ENST00000313468.9:c.*15G>A	ENSP00000315774.5:n.*15G>A
ENST00000524810.5:c.580G>A
ENST00000528492.1:c.*15G>A	ENSP00000432848.1:n.*15G>A
ENST00000531282.1:n.500G>A
NM_002496.3:c.*15G>A	NP_002487.1:n.*15G>A
XM_005274013.1:c.*15G>A	XP_005274070.1:n.*15G>A
XM_005274014.1:c.*15G>A	XP_005274071.1:n.*15G>A
XM_005274015.1:c.*15G>A	XP_005274072.1:n.*15G>A
XM_011545053.1:c.*15G>A	XP_011543355.1:n.*15G>A
NM_002496.4:c.*15G>A MANE Select	NP_002487.1:n.*15G>A