Canonical Allele Identifier: CA475440994
Gene: NDUFS8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67803725C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68036258C>A , CM000673.2:g.68036258C>A GRCh38
NC_000011.9:g.67803725C>A , CM000673.1:g.67803725C>A GRCh37
NC_000011.8:g.67560301C>A NCBI36
NG_007878.1:g.2243C>A , LRG_115:g.2243C>A
NG_017040.1:g.10642C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.378C>A MANE Select ENSP00000315774.5:p.Ile126=
ENST00000313468.9:c.378C>A ENSP00000315774.5:p.Ile126=
ENST00000524810.5:c.310C>A
ENST00000525419.5:c.324C>A ENSP00000433521.1:p.Ile108=
ENST00000526339.5:c.378C>A ENSP00000436287.1:p.Ile126=
ENST00000526446.5:c.*433C>A ENSP00000433645.1:n.*433C>A
ENST00000526542.1:n.329C>A
ENST00000528492.1:c.-61C>A ENSP00000432848.1:n.-61C>A
ENST00000531282.1:n.230C>A
NM_002496.3:c.378C>A NP_002487.1:p.Ile126=
XM_005274013.1:c.378C>A XP_005274070.1:p.Ile126=
XM_005274014.1:c.378C>A XP_005274071.1:p.Ile126=
XM_005274015.1:c.258C>A XP_005274072.1:p.Ile86=
XM_011545053.1:c.378C>A XP_011543355.1:p.Ile126=
NM_002496.4:c.378C>A MANE Select NP_002487.1:p.Ile126=