Canonical Allele Identifier: CA475443190
Gene: NDUFS8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67804057G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68036590G>T , CM000673.2:g.68036590G>T GRCh38
NC_000011.9:g.67804057G>T , CM000673.1:g.67804057G>T GRCh37
NC_000011.8:g.67560633G>T NCBI36
NG_007878.1:g.2575G>T , LRG_115:g.2575G>T
NG_017040.1:g.10974G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.630G>T MANE Select ENSP00000315774.5:p.Arg210=
ENST00000313468.9:c.630G>T ENSP00000315774.5:p.Arg210=
ENST00000524810.5:c.562G>T
ENST00000528492.1:c.192G>T ENSP00000432848.1:p.Arg64=
ENST00000531282.1:n.482G>T
NM_002496.3:c.630G>T NP_002487.1:p.Arg210=
XM_005274013.1:c.630G>T XP_005274070.1:p.Arg210=
XM_005274014.1:c.630G>T XP_005274071.1:p.Arg210=
XM_005274015.1:c.510G>T XP_005274072.1:p.Arg170=
XM_011545053.1:c.630G>T XP_011543355.1:p.Arg210=
NM_002496.4:c.630G>T MANE Select NP_002487.1:p.Arg210=