Canonical Allele Identifier: CA224195190
Gene: NDUFS8 HGNC NCBI

Linked Data

dbSNP Id: rs1804688

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68036557C>A , CM000673.2:g.68036557C>A GRCh38
NC_000011.9:g.67804024C>A , CM000673.1:g.67804024C>A GRCh37
NC_000011.8:g.67560600C>A NCBI36
NG_007878.1:g.2542C>A , LRG_115:g.2542C>A
NG_017040.1:g.10941C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.597C>A MANE Select ENSP00000315774.5:p.Ile199=
ENST00000313468.9:c.597C>A ENSP00000315774.5:p.Ile199=
ENST00000524810.5:c.529C>A
ENST00000528492.1:c.159C>A ENSP00000432848.1:p.Ile53=
ENST00000531282.1:n.449C>A
NM_002496.3:c.597C>A NP_002487.1:p.Ile199=
XM_005274013.1:c.597C>A XP_005274070.1:p.Ile199=
XM_005274014.1:c.597C>A XP_005274071.1:p.Ile199=
XM_005274015.1:c.477C>A XP_005274072.1:p.Ile159=
XM_011545053.1:c.597C>A XP_011543355.1:p.Ile199=
NM_002496.4:c.597C>A MANE Select NP_002487.1:p.Ile199=