Canonical Allele Identifier: CA381568725

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803733A>C (hg19) ; chr11:g.68036266A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036266A>C , CM000673.2:g.68036266A>C	GRCh38
NC_000011.9:g.67803733A>C , CM000673.1:g.67803733A>C	GRCh37
NC_000011.8:g.67560309A>C	NCBI36
NG_007878.1:g.2251A>C , LRG_115:g.2251A>C
NG_017040.1:g.10650A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.386A>C MANE Select	ENSP00000315774.5:p.Glu129Ala
ENST00000313468.9:c.386A>C	ENSP00000315774.5:p.Glu129Ala
ENST00000524810.5:c.318A>C
ENST00000525419.5:c.332A>C	ENSP00000433521.1:p.Glu111Ala
ENST00000526339.5:c.386A>C	ENSP00000436287.1:p.Glu129Ala
ENST00000526446.5:c.*441A>C	ENSP00000433645.1:n.*441A>C
ENST00000526542.1:n.337A>C
ENST00000528492.1:c.-53A>C	ENSP00000432848.1:n.-53A>C
ENST00000531282.1:n.238A>C
NM_002496.3:c.386A>C	NP_002487.1:p.Glu129Ala
XM_005274013.1:c.386A>C	XP_005274070.1:p.Glu129Ala
XM_005274014.1:c.386A>C	XP_005274071.1:p.Glu129Ala
XM_005274015.1:c.266A>C	XP_005274072.1:p.Glu89Ala
XM_011545053.1:c.386A>C	XP_011543355.1:p.Glu129Ala
NM_002496.4:c.386A>C MANE Select	NP_002487.1:p.Glu129Ala