Canonical Allele Identifier: CA475513425
Gene: NDUFS8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67800478A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68033011A>T , CM000673.2:g.68033011A>T GRCh38
NC_000011.9:g.67800478A>T , CM000673.1:g.67800478A>T GRCh37
NC_000011.8:g.67557054A>T NCBI36
NG_017040.1:g.7395A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.198A>T MANE Select ENSP00000315774.5:p.Arg66=
ENST00000313468.9:c.198A>T ENSP00000315774.5:p.Arg66=
ENST00000432321.6:n.315A>T
ENST00000453471.6:c.198A>T ENSP00000403972.2:p.Arg66=
ENST00000525419.5:c.144A>T ENSP00000433521.1:p.Arg48=
ENST00000525628.1:c.198A>T ENSP00000432968.1:p.Arg66=
ENST00000526339.5:c.198A>T ENSP00000436287.1:p.Arg66=
ENST00000526446.5:c.*253A>T ENSP00000433645.1:n.*253A>T
ENST00000528492.1:c.-67+2278A>T ENSP00000432848.1:n.-67+2278A>T
ENST00000529645.1:c.376A>T ENSP00000431293.1:n.376A>T
ENST00000531228.1:c.*40A>T ENSP00000433054.1:n.*40A>T
ENST00000532399.1:n.805A>T
NM_002496.3:c.198A>T NP_002487.1:p.Arg66=
XM_005274013.1:c.198A>T XP_005274070.1:p.Arg66=
XM_005274014.1:c.198A>T XP_005274071.1:p.Arg66=
XM_005274015.1:c.78A>T XP_005274072.1:p.Arg26=
XM_011545053.1:c.198A>T XP_011543355.1:p.Arg66=
NM_002496.4:c.198A>T MANE Select NP_002487.1:p.Arg66=