Canonical Allele Identifier: CA381599120

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67800423T>G (hg19) ; chr11:g.68032956T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68032956T>G , CM000673.2:g.68032956T>G	GRCh38
NC_000011.9:g.67800423T>G , CM000673.1:g.67800423T>G	GRCh37
NC_000011.8:g.67556999T>G	NCBI36
NG_017040.1:g.7340T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.143T>G MANE Select	ENSP00000315774.5:p.Met48Arg
ENST00000313468.9:c.143T>G	ENSP00000315774.5:p.Met48Arg
ENST00000432321.6:n.260T>G
ENST00000453471.6:c.143T>G	ENSP00000403972.2:p.Met48Arg
ENST00000525419.5:c.89T>G	ENSP00000433521.1:p.Met30Arg
ENST00000525628.1:c.143T>G	ENSP00000432968.1:p.Met48Arg
ENST00000526339.5:c.143T>G	ENSP00000436287.1:p.Met48Arg
ENST00000526446.5:c.*198T>G	ENSP00000433645.1:n.*198T>G
ENST00000528492.1:c.-67+2223T>G	ENSP00000432848.1:n.-67+2223T>G
ENST00000529645.1:c.321T>G	ENSP00000431293.1:n.321T>G
ENST00000531228.1:c.198T>G	ENSP00000433054.1:p.His66Gln
ENST00000532399.1:n.750T>G
NM_002496.3:c.143T>G	NP_002487.1:p.Met48Arg
XM_005274013.1:c.143T>G	XP_005274070.1:p.Met48Arg
XM_005274014.1:c.143T>G	XP_005274071.1:p.Met48Arg
XM_005274015.1:c.23T>G	XP_005274072.1:p.Met8Arg
XM_011545053.1:c.143T>G	XP_011543355.1:p.Met48Arg
NM_002496.4:c.143T>G MANE Select	NP_002487.1:p.Met48Arg