Canonical Allele Identifier: CA381569617

Gene: NDUFS8

Linked Data

• dbSNP Id: rs780213985
• gnomAD v4: 11-68036479-C-A
• MyVariant Identifiers: chr11:g.67803946C>A (hg19) ; chr11:g.68036479C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036479C>A , CM000673.2:g.68036479C>A	GRCh38
NC_000011.9:g.67803946C>A , CM000673.1:g.67803946C>A	GRCh37
NC_000011.8:g.67560522C>A	NCBI36
NG_007878.1:g.2464C>A , LRG_115:g.2464C>A
NG_017040.1:g.10863C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.519C>A MANE Select	ENSP00000315774.5:p.Phe173Leu
ENST00000313468.9:c.519C>A	ENSP00000315774.5:p.Phe173Leu
ENST00000524810.5:c.451C>A
ENST00000526339.5:c.519C>A	ENSP00000436287.1:p.Phe173Leu
ENST00000526446.5:c.*574C>A	ENSP00000433645.1:n.*574C>A
ENST00000528492.1:c.81C>A	ENSP00000432848.1:p.Phe27Leu
ENST00000531282.1:n.371C>A
NM_002496.3:c.519C>A	NP_002487.1:p.Phe173Leu
XM_005274013.1:c.519C>A	XP_005274070.1:p.Phe173Leu
XM_005274014.1:c.519C>A	XP_005274071.1:p.Phe173Leu
XM_005274015.1:c.399C>A	XP_005274072.1:p.Phe133Leu
XM_011545053.1:c.519C>A	XP_011543355.1:p.Phe173Leu
NM_002496.4:c.519C>A MANE Select	NP_002487.1:p.Phe173Leu