Canonical Allele Identifier: CA381569217

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803795T>C (hg19) ; chr11:g.68036328T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036328T>C , CM000673.2:g.68036328T>C	GRCh38
NC_000011.9:g.67803795T>C , CM000673.1:g.67803795T>C	GRCh37
NC_000011.8:g.67560371T>C	NCBI36
NG_007878.1:g.2313T>C , LRG_115:g.2313T>C
NG_017040.1:g.10712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.448T>C MANE Select	ENSP00000315774.5:p.Cys150Arg
ENST00000313468.9:c.448T>C	ENSP00000315774.5:p.Cys150Arg
ENST00000524810.5:c.380T>C
ENST00000525419.5:c.394T>C	ENSP00000433521.1:p.Cys132Arg
ENST00000526339.5:c.448T>C	ENSP00000436287.1:p.Cys150Arg
ENST00000526446.5:c.*503T>C	ENSP00000433645.1:n.*503T>C
ENST00000528492.1:c.10T>C	ENSP00000432848.1:p.Cys4Arg
ENST00000531282.1:n.300T>C
NM_002496.3:c.448T>C	NP_002487.1:p.Cys150Arg
XM_005274013.1:c.448T>C	XP_005274070.1:p.Cys150Arg
XM_005274014.1:c.448T>C	XP_005274071.1:p.Cys150Arg
XM_005274015.1:c.328T>C	XP_005274072.1:p.Cys110Arg
XM_011545053.1:c.448T>C	XP_011543355.1:p.Cys150Arg
NM_002496.4:c.448T>C MANE Select	NP_002487.1:p.Cys150Arg