Canonical Allele Identifier: CA381568662
Gene: NDUFS8 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.378C>G MANE Select ENSP00000315774.5:p.Ile126Met
ENST00000313468.9:c.378C>G ENSP00000315774.5:p.Ile126Met
ENST00000524810.5:c.310C>G
ENST00000525419.5:c.324C>G ENSP00000433521.1:p.Ile108Met
ENST00000526339.5:c.378C>G ENSP00000436287.1:p.Ile126Met
ENST00000526446.5:c.*433C>G ENSP00000433645.1:n.*433C>G
ENST00000526542.1:n.329C>G
ENST00000528492.1:c.-61C>G ENSP00000432848.1:n.-61C>G
ENST00000531282.1:n.230C>G
NM_002496.3:c.378C>G NP_002487.1:p.Ile126Met
XM_005274013.1:c.378C>G XP_005274070.1:p.Ile126Met
XM_005274014.1:c.378C>G XP_005274071.1:p.Ile126Met
XM_005274015.1:c.258C>G XP_005274072.1:p.Ile86Met
XM_011545053.1:c.378C>G XP_011543355.1:p.Ile126Met
NM_002496.4:c.378C>G MANE Select NP_002487.1:p.Ile126Met