Canonical Allele Identifier: CA381569585

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803944T>C (hg19) ; chr11:g.68036477T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036477T>C , CM000673.2:g.68036477T>C	GRCh38
NC_000011.9:g.67803944T>C , CM000673.1:g.67803944T>C	GRCh37
NC_000011.8:g.67560520T>C	NCBI36
NG_007878.1:g.2462T>C , LRG_115:g.2462T>C
NG_017040.1:g.10861T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.517T>C MANE Select	ENSP00000315774.5:p.Phe173Leu
ENST00000313468.9:c.517T>C	ENSP00000315774.5:p.Phe173Leu
ENST00000524810.5:c.449T>C
ENST00000526339.5:c.517T>C	ENSP00000436287.1:p.Phe173Leu
ENST00000526446.5:c.*572T>C	ENSP00000433645.1:n.*572T>C
ENST00000528492.1:c.79T>C	ENSP00000432848.1:p.Phe27Leu
ENST00000531282.1:n.369T>C
NM_002496.3:c.517T>C	NP_002487.1:p.Phe173Leu
XM_005274013.1:c.517T>C	XP_005274070.1:p.Phe173Leu
XM_005274014.1:c.517T>C	XP_005274071.1:p.Phe173Leu
XM_005274015.1:c.397T>C	XP_005274072.1:p.Phe133Leu
XM_011545053.1:c.517T>C	XP_011543355.1:p.Phe173Leu
NM_002496.4:c.517T>C MANE Select	NP_002487.1:p.Phe173Leu