Canonical Allele Identifier: CA320413

Gene: NDUFS8

Linked Data

• dbSNP Id: rs754843709
• ExAC: 11:67803828 C / A
• gnomAD v2: 11-67803828-C-A
• gnomAD v3: 11-68036361-C-A
• gnomAD v4: 11-68036361-C-A
• MyVariant Identifiers: chr11:g.67803828C>A (hg19) ; chr11:g.68036361C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036361C>A , CM000673.2:g.68036361C>A	GRCh38
NC_000011.9:g.67803828C>A , CM000673.1:g.67803828C>A	GRCh37
NC_000011.8:g.67560404C>A	NCBI36
NG_007878.1:g.2346C>A , LRG_115:g.2346C>A
NG_017040.1:g.10745C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.481C>A MANE Select	ENSP00000315774.5:p.Pro161Thr
ENST00000313468.9:c.481C>A	ENSP00000315774.5:p.Pro161Thr
ENST00000524810.5:c.413C>A
ENST00000526339.5:c.481C>A	ENSP00000436287.1:p.Pro161Thr
ENST00000526446.5:c.*536C>A	ENSP00000433645.1:n.*536C>A
ENST00000528492.1:c.43C>A	ENSP00000432848.1:p.Pro15Thr
ENST00000531282.1:n.333C>A
NM_002496.3:c.481C>A	NP_002487.1:p.Pro161Thr
XM_005274013.1:c.481C>A	XP_005274070.1:p.Pro161Thr
XM_005274014.1:c.481C>A	XP_005274071.1:p.Pro161Thr
XM_005274015.1:c.361C>A	XP_005274072.1:p.Pro121Thr
XM_011545053.1:c.481C>A	XP_011543355.1:p.Pro161Thr
NM_002496.4:c.481C>A MANE Select	NP_002487.1:p.Pro161Thr