Canonical Allele Identifier: CA6146560
Gene: NDUFS8 HGNC NCBI

Linked Data

dbSNP Id: rs759588414

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68036473dup , CM000673.2:g.68036473dup GRCh38
NC_000011.9:g.67803940dup , CM000673.1:g.67803940dup GRCh37
NC_000011.8:g.67560516dup NCBI36
NG_007878.1:g.2458dup , LRG_115:g.2458dup
NG_017040.1:g.10857dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.513dup MANE Select ENSP00000315774.5:p.Glu172Ter
ENST00000313468.9:c.513dup ENSP00000315774.5:p.Glu172Ter
ENST00000524810.5:c.445dup
ENST00000526339.5:c.513dup ENSP00000436287.1:p.Glu172Ter
ENST00000526446.5:c.*568dup ENSP00000433645.1:n.*568dup
ENST00000528492.1:c.75dup ENSP00000432848.1:p.Glu26Ter
ENST00000531282.1:n.365dup
NM_002496.3:c.513dup NP_002487.1:p.Glu172Ter
XM_005274013.1:c.513dup XP_005274070.1:p.Glu172Ter
XM_005274014.1:c.513dup XP_005274071.1:p.Glu172Ter
XM_005274015.1:c.393dup XP_005274072.1:p.Glu132Ter
XM_011545053.1:c.513dup XP_011543355.1:p.Glu172Ter
NM_002496.4:c.513dup MANE Select NP_002487.1:p.Glu172Ter