Canonical Allele Identifier: CA475513500
Gene: NDUFS8 HGNC NCBI

Linked Data

dbSNP Id: rs1854806609
MyVariant Identifiers: chr11:g.67800669G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68033202G>C , CM000673.2:g.68033202G>C GRCh38
NC_000011.9:g.67800669G>C , CM000673.1:g.67800669G>C GRCh37
NC_000011.8:g.67557245G>C NCBI36
NG_017040.1:g.7586G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.291G>C MANE Select ENSP00000315774.5:p.Gly97=
ENST00000313468.9:c.291G>C ENSP00000315774.5:p.Gly97=
ENST00000432321.6:n.408G>C
ENST00000453471.6:c.291G>C ENSP00000403972.2:p.Gly97=
ENST00000524810.5:c.62G>C
ENST00000525419.5:c.237G>C ENSP00000433521.1:p.Gly79=
ENST00000525628.1:c.291G>C ENSP00000432968.1:p.Gly97=
ENST00000526339.5:c.291G>C ENSP00000436287.1:p.Gly97=
ENST00000526446.5:c.*346G>C ENSP00000433645.1:n.*346G>C
ENST00000528492.1:c.-67+2469G>C ENSP00000432848.1:n.-67+2469G>C
ENST00000529645.1:c.469G>C ENSP00000431293.1:n.469G>C
ENST00000531228.1:c.*133G>C ENSP00000433054.1:n.*133G>C
ENST00000532399.1:n.996G>C
NM_002496.3:c.291G>C NP_002487.1:p.Gly97=
XM_005274013.1:c.291G>C XP_005274070.1:p.Gly97=
XM_005274014.1:c.291G>C XP_005274071.1:p.Gly97=
XM_005274015.1:c.171G>C XP_005274072.1:p.Gly57=
XM_011545053.1:c.291G>C XP_011543355.1:p.Gly97=
NM_002496.4:c.291G>C MANE Select NP_002487.1:p.Gly97=