Canonical Allele Identifier: CA381568669

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803726A>G (hg19) ; chr11:g.68036259A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036259A>G , CM000673.2:g.68036259A>G	GRCh38
NC_000011.9:g.67803726A>G , CM000673.1:g.67803726A>G	GRCh37
NC_000011.8:g.67560302A>G	NCBI36
NG_007878.1:g.2244A>G , LRG_115:g.2244A>G
NG_017040.1:g.10643A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.379A>G MANE Select	ENSP00000315774.5:p.Thr127Ala
ENST00000313468.9:c.379A>G	ENSP00000315774.5:p.Thr127Ala
ENST00000524810.5:c.311A>G
ENST00000525419.5:c.325A>G	ENSP00000433521.1:p.Thr109Ala
ENST00000526339.5:c.379A>G	ENSP00000436287.1:p.Thr127Ala
ENST00000526446.5:c.*434A>G	ENSP00000433645.1:n.*434A>G
ENST00000526542.1:n.330A>G
ENST00000528492.1:c.-60A>G	ENSP00000432848.1:n.-60A>G
ENST00000531282.1:n.231A>G
NM_002496.3:c.379A>G	NP_002487.1:p.Thr127Ala
XM_005274013.1:c.379A>G	XP_005274070.1:p.Thr127Ala
XM_005274014.1:c.379A>G	XP_005274071.1:p.Thr127Ala
XM_005274015.1:c.259A>G	XP_005274072.1:p.Thr87Ala
XM_011545053.1:c.379A>G	XP_011543355.1:p.Thr127Ala
NM_002496.4:c.379A>G MANE Select	NP_002487.1:p.Thr127Ala