Canonical Allele Identifier: CA381599317

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67800471T>C (hg19) ; chr11:g.68033004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033004T>C , CM000673.2:g.68033004T>C	GRCh38
NC_000011.9:g.67800471T>C , CM000673.1:g.67800471T>C	GRCh37
NC_000011.8:g.67557047T>C	NCBI36
NG_017040.1:g.7388T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.191T>C MANE Select	ENSP00000315774.5:p.Leu64Pro
ENST00000313468.9:c.191T>C	ENSP00000315774.5:p.Leu64Pro
ENST00000432321.6:n.308T>C
ENST00000453471.6:c.191T>C	ENSP00000403972.2:p.Leu64Pro
ENST00000525419.5:c.137T>C	ENSP00000433521.1:p.Leu46Pro
ENST00000525628.1:c.191T>C	ENSP00000432968.1:p.Leu64Pro
ENST00000526339.5:c.191T>C	ENSP00000436287.1:p.Leu64Pro
ENST00000526446.5:c.*246T>C	ENSP00000433645.1:n.*246T>C
ENST00000528492.1:c.-67+2271T>C	ENSP00000432848.1:n.-67+2271T>C
ENST00000529645.1:c.369T>C	ENSP00000431293.1:n.369T>C
ENST00000531228.1:c.*33T>C	ENSP00000433054.1:n.*33T>C
ENST00000532399.1:n.798T>C
NM_002496.3:c.191T>C	NP_002487.1:p.Leu64Pro
XM_005274013.1:c.191T>C	XP_005274070.1:p.Leu64Pro
XM_005274014.1:c.191T>C	XP_005274071.1:p.Leu64Pro
XM_005274015.1:c.71T>C	XP_005274072.1:p.Leu24Pro
XM_011545053.1:c.191T>C	XP_011543355.1:p.Leu64Pro
NM_002496.4:c.191T>C MANE Select	NP_002487.1:p.Leu64Pro