Canonical Allele Identifier: CA6146321
Community Standard Title: NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)
Gene: NDUFS8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68032170C>A , CM000673.2:g.68032170C>A GRCh38
NC_000011.9:g.67799637C>A , CM000673.1:g.67799637C>A GRCh37
NC_000011.8:g.67556213C>A NCBI36
NG_017040.1:g.6554C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002496.4:c.19C>A MANE Select NP_002487.1:p.Pro7Thr
ENST00000313468.10:c.19C>A MANE Select ENSP00000315774.5:p.Pro7Thr
NM_002496.3:c.19C>A NP_002487.1:p.Pro7Thr
ENST00000313468.9:c.19C>A ENSP00000315774.5:p.Pro7Thr
ENST00000432321.6:n.136C>A
ENST00000453471.6:c.19C>A ENSP00000403972.2:p.Pro7Thr
ENST00000525419.5:c.56-753C>A ENSP00000433521.1:n.56-753C>A
ENST00000525628.1:c.19C>A ENSP00000432968.1:p.Pro7Thr
ENST00000526339.5:c.19C>A ENSP00000436287.1:p.Pro7Thr
ENST00000526446.5:c.19C>A ENSP00000433645.1:p.Pro7Thr
ENST00000528492.1:c.-67+1437C>A ENSP00000432848.1:n.-67+1437C>A
ENST00000529645.1:c.10C>A ENSP00000431293.1:p.Pro4Thr
ENST00000531228.1:c.74C>A ENSP00000433054.1:p.Ala25Asp
ENST00000531796.1:n.100C>A
ENST00000532399.1:n.40C>A
XM_005274013.1:c.19C>A XP_005274070.1:p.Pro7Thr
XM_005274014.1:c.19C>A XP_005274071.1:p.Pro7Thr
XM_005274015.1:c.-289C>A XP_005274072.1:n.-289C>A
XM_011545053.1:c.19C>A XP_011543355.1:p.Pro7Thr