Canonical Allele Identifier: CA381600172

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68033248-G-T
• MyVariant Identifiers: chr11:g.67800715G>T (hg19) ; chr11:g.68033248G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033248G>T , CM000673.2:g.68033248G>T	GRCh38
NC_000011.9:g.67800715G>T , CM000673.1:g.67800715G>T	GRCh37
NC_000011.8:g.67557291G>T	NCBI36
NG_017040.1:g.7632G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.337G>T MANE Select	ENSP00000315774.5:p.Ala113Ser
ENST00000313468.9:c.337G>T	ENSP00000315774.5:p.Ala113Ser
ENST00000432321.6:n.454G>T
ENST00000453471.6:c.337G>T	ENSP00000403972.2:p.Ala113Ser
ENST00000524810.5:c.108G>T
ENST00000525419.5:c.283G>T	ENSP00000433521.1:p.Ala95Ser
ENST00000526339.5:c.337G>T	ENSP00000436287.1:p.Ala113Ser
ENST00000526446.5:c.*392G>T	ENSP00000433645.1:n.*392G>T
ENST00000528492.1:c.-67+2515G>T	ENSP00000432848.1:n.-67+2515G>T
ENST00000529645.1:c.515G>T	ENSP00000431293.1:n.515G>T
ENST00000532399.1:n.1042G>T
NM_002496.3:c.337G>T	NP_002487.1:p.Ala113Ser
XM_005274013.1:c.337G>T	XP_005274070.1:p.Ala113Ser
XM_005274014.1:c.337G>T	XP_005274071.1:p.Ala113Ser
XM_005274015.1:c.217G>T	XP_005274072.1:p.Ala73Ser
XM_011545053.1:c.337G>T	XP_011543355.1:p.Ala113Ser
NM_002496.4:c.337G>T MANE Select	NP_002487.1:p.Ala113Ser