Canonical Allele Identifier: CA475443147

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1590792205
• MyVariant Identifiers: chr11:g.67804049T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036582T>C , CM000673.2:g.68036582T>C	GRCh38
NC_000011.9:g.67804049T>C , CM000673.1:g.67804049T>C	GRCh37
NC_000011.8:g.67560625T>C	NCBI36
NG_007878.1:g.2567T>C , LRG_115:g.2567T>C
NG_017040.1:g.10966T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.622T>C MANE Select	ENSP00000315774.5:p.Leu208=
ENST00000313468.9:c.622T>C	ENSP00000315774.5:p.Leu208=
ENST00000524810.5:c.554T>C
ENST00000528492.1:c.184T>C	ENSP00000432848.1:p.Leu62=
ENST00000531282.1:n.474T>C
NM_002496.3:c.622T>C	NP_002487.1:p.Leu208=
XM_005274013.1:c.622T>C	XP_005274070.1:p.Leu208=
XM_005274014.1:c.622T>C	XP_005274071.1:p.Leu208=
XM_005274015.1:c.502T>C	XP_005274072.1:p.Leu168=
XM_011545053.1:c.622T>C	XP_011543355.1:p.Leu208=
NM_002496.4:c.622T>C MANE Select	NP_002487.1:p.Leu208=