Canonical Allele Identifier: CA6146517

Gene: NDUFS8

Linked Data

• dbSNP Id: rs750079497
• ExAC: 11:67803735 G / A
• gnomAD v2: 11-67803735-G-A
• gnomAD v4: 11-68036268-G-A
• MyVariant Identifiers: chr11:g.67803735G>A (hg19) ; chr11:g.68036268G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036268G>A , CM000673.2:g.68036268G>A	GRCh38
NC_000011.9:g.67803735G>A , CM000673.1:g.67803735G>A	GRCh37
NC_000011.8:g.67560311G>A	NCBI36
NG_007878.1:g.2253G>A , LRG_115:g.2253G>A
NG_017040.1:g.10652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.388G>A MANE Select	ENSP00000315774.5:p.Ala130Thr
ENST00000313468.9:c.388G>A	ENSP00000315774.5:p.Ala130Thr
ENST00000524810.5:c.320G>A
ENST00000525419.5:c.334G>A	ENSP00000433521.1:p.Ala112Thr
ENST00000526339.5:c.388G>A	ENSP00000436287.1:p.Ala130Thr
ENST00000526446.5:c.*443G>A	ENSP00000433645.1:n.*443G>A
ENST00000526542.1:n.339G>A
ENST00000528492.1:c.-51G>A	ENSP00000432848.1:n.-51G>A
ENST00000531282.1:n.240G>A
NM_002496.3:c.388G>A	NP_002487.1:p.Ala130Thr
XM_005274013.1:c.388G>A	XP_005274070.1:p.Ala130Thr
XM_005274014.1:c.388G>A	XP_005274071.1:p.Ala130Thr
XM_005274015.1:c.268G>A	XP_005274072.1:p.Ala90Thr
XM_011545053.1:c.388G>A	XP_011543355.1:p.Ala130Thr
NM_002496.4:c.388G>A MANE Select	NP_002487.1:p.Ala130Thr