Canonical Allele Identifier: CA381569787
Gene: NDUFS8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68036507T>A , CM000673.2:g.68036507T>A GRCh38
NC_000011.9:g.67803974T>A , CM000673.1:g.67803974T>A GRCh37
NC_000011.8:g.67560550T>A NCBI36
NG_007878.1:g.2492T>A , LRG_115:g.2492T>A
NG_017040.1:g.10891T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.547T>A MANE Select ENSP00000315774.5:p.Tyr183Asn
ENST00000313468.9:c.547T>A ENSP00000315774.5:p.Tyr183Asn
ENST00000524810.5:c.479T>A
ENST00000526339.5:c.547T>A ENSP00000436287.1:p.Tyr183Asn
ENST00000526446.5:c.*602T>A ENSP00000433645.1:n.*602T>A
ENST00000528492.1:c.109T>A ENSP00000432848.1:p.Tyr37Asn
ENST00000531282.1:n.399T>A
NM_002496.3:c.547T>A NP_002487.1:p.Tyr183Asn
XM_005274013.1:c.547T>A XP_005274070.1:p.Tyr183Asn
XM_005274014.1:c.547T>A XP_005274071.1:p.Tyr183Asn
XM_005274015.1:c.427T>A XP_005274072.1:p.Tyr143Asn
XM_011545053.1:c.547T>A XP_011543355.1:p.Tyr183Asn
NM_002496.4:c.547T>A MANE Select NP_002487.1:p.Tyr183Asn