Canonical Allele Identifier: CA381600156

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68033245-A-T
• MyVariant Identifiers: chr11:g.67800712A>T (hg19) ; chr11:g.68033245A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033245A>T , CM000673.2:g.68033245A>T	GRCh38
NC_000011.9:g.67800712A>T , CM000673.1:g.67800712A>T	GRCh37
NC_000011.8:g.67557288A>T	NCBI36
NG_017040.1:g.7629A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.334A>T MANE Select	ENSP00000315774.5:p.Ile112Phe
ENST00000313468.9:c.334A>T	ENSP00000315774.5:p.Ile112Phe
ENST00000432321.6:n.451A>T
ENST00000453471.6:c.334A>T	ENSP00000403972.2:p.Ile112Phe
ENST00000524810.5:c.105A>T
ENST00000525419.5:c.280A>T	ENSP00000433521.1:p.Ile94Phe
ENST00000526339.5:c.334A>T	ENSP00000436287.1:p.Ile112Phe
ENST00000526446.5:c.*389A>T	ENSP00000433645.1:n.*389A>T
ENST00000528492.1:c.-67+2512A>T	ENSP00000432848.1:n.-67+2512A>T
ENST00000529645.1:c.512A>T	ENSP00000431293.1:n.512A>T
ENST00000532399.1:n.1039A>T
NM_002496.3:c.334A>T	NP_002487.1:p.Ile112Phe
XM_005274013.1:c.334A>T	XP_005274070.1:p.Ile112Phe
XM_005274014.1:c.334A>T	XP_005274071.1:p.Ile112Phe
XM_005274015.1:c.214A>T	XP_005274072.1:p.Ile72Phe
XM_011545053.1:c.334A>T	XP_011543355.1:p.Ile112Phe
NM_002496.4:c.334A>T MANE Select	NP_002487.1:p.Ile112Phe