Canonical Allele Identifier: CA381599615
Community Standard Title: NM_002496.4(NDUFS8):c.236C>A (p.Pro79Gln)
Gene: NDUFS8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68033147C>A , CM000673.2:g.68033147C>A GRCh38
NC_000011.9:g.67800614C>A , CM000673.1:g.67800614C>A GRCh37
NC_000011.8:g.67557190C>A NCBI36
NG_017040.1:g.7531C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002496.4:c.236C>A MANE Select NP_002487.1:p.Pro79Gln
ENST00000313468.10:c.236C>A MANE Select ENSP00000315774.5:p.Pro79Gln
NM_002496.3:c.236C>A NP_002487.1:p.Pro79Gln
ENST00000313468.9:c.236C>A ENSP00000315774.5:p.Pro79Gln
ENST00000432321.6:n.353C>A
ENST00000453471.6:c.236C>A ENSP00000403972.2:p.Pro79Gln
ENST00000524810.5:c.7C>A
ENST00000525419.5:c.182C>A ENSP00000433521.1:p.Pro61Gln
ENST00000525628.1:c.236C>A ENSP00000432968.1:p.Pro79Gln
ENST00000526339.5:c.236C>A ENSP00000436287.1:p.Pro79Gln
ENST00000526446.5:c.*291C>A ENSP00000433645.1:n.*291C>A
ENST00000528492.1:c.-67+2414C>A ENSP00000432848.1:n.-67+2414C>A
ENST00000529645.1:c.414C>A ENSP00000431293.1:n.414C>A
ENST00000531228.1:c.*78C>A ENSP00000433054.1:n.*78C>A
ENST00000532399.1:n.941C>A
XM_005274013.1:c.236C>A XP_005274070.1:p.Pro79Gln
XM_005274014.1:c.236C>A XP_005274071.1:p.Pro79Gln
XM_005274015.1:c.116C>A XP_005274072.1:p.Pro39Gln
XM_011545053.1:c.236C>A XP_011543355.1:p.Pro79Gln