Canonical Allele Identifier: CA381569843

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803979C>A (hg19) ; chr11:g.68036512C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036512C>A , CM000673.2:g.68036512C>A	GRCh38
NC_000011.9:g.67803979C>A , CM000673.1:g.67803979C>A	GRCh37
NC_000011.8:g.67560555C>A	NCBI36
NG_007878.1:g.2497C>A , LRG_115:g.2497C>A
NG_017040.1:g.10896C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.552C>A MANE Select	ENSP00000315774.5:p.Asn184Lys
ENST00000313468.9:c.552C>A	ENSP00000315774.5:p.Asn184Lys
ENST00000524810.5:c.484C>A
ENST00000526339.5:c.552C>A	ENSP00000436287.1:p.Asn184Lys
ENST00000526446.5:c.*607C>A	ENSP00000433645.1:n.*607C>A
ENST00000528492.1:c.114C>A	ENSP00000432848.1:p.Asn38Lys
ENST00000531282.1:n.404C>A
NM_002496.3:c.552C>A	NP_002487.1:p.Asn184Lys
XM_005274013.1:c.552C>A	XP_005274070.1:p.Asn184Lys
XM_005274014.1:c.552C>A	XP_005274071.1:p.Asn184Lys
XM_005274015.1:c.432C>A	XP_005274072.1:p.Asn144Lys
XM_011545053.1:c.552C>A	XP_011543355.1:p.Asn184Lys
NM_002496.4:c.552C>A MANE Select	NP_002487.1:p.Asn184Lys