Canonical Allele Identifier: CA381570346

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67804031A>C (hg19) ; chr11:g.68036564A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036564A>C , CM000673.2:g.68036564A>C	GRCh38
NC_000011.9:g.67804031A>C , CM000673.1:g.67804031A>C	GRCh37
NC_000011.8:g.67560607A>C	NCBI36
NG_007878.1:g.2549A>C , LRG_115:g.2549A>C
NG_017040.1:g.10948A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.604A>C MANE Select	ENSP00000315774.5:p.Asn202His
ENST00000313468.9:c.604A>C	ENSP00000315774.5:p.Asn202His
ENST00000524810.5:c.536A>C
ENST00000528492.1:c.166A>C	ENSP00000432848.1:p.Asn56His
ENST00000531282.1:n.456A>C
NM_002496.3:c.604A>C	NP_002487.1:p.Asn202His
XM_005274013.1:c.604A>C	XP_005274070.1:p.Asn202His
XM_005274014.1:c.604A>C	XP_005274071.1:p.Asn202His
XM_005274015.1:c.484A>C	XP_005274072.1:p.Asn162His
XM_011545053.1:c.604A>C	XP_011543355.1:p.Asn202His
NM_002496.4:c.604A>C MANE Select	NP_002487.1:p.Asn202His