Canonical Allele Identifier: CA381569700

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803957C>T (hg19) ; chr11:g.68036490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036490C>T , CM000673.2:g.68036490C>T	GRCh38
NC_000011.9:g.67803957C>T , CM000673.1:g.67803957C>T	GRCh37
NC_000011.8:g.67560533C>T	NCBI36
NG_007878.1:g.2475C>T , LRG_115:g.2475C>T
NG_017040.1:g.10874C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.530C>T MANE Select	ENSP00000315774.5:p.Thr177Ile
ENST00000313468.9:c.530C>T	ENSP00000315774.5:p.Thr177Ile
ENST00000524810.5:c.462C>T
ENST00000526339.5:c.530C>T	ENSP00000436287.1:p.Thr177Ile
ENST00000526446.5:c.*585C>T	ENSP00000433645.1:n.*585C>T
ENST00000528492.1:c.92C>T	ENSP00000432848.1:p.Thr31Ile
ENST00000531282.1:n.382C>T
NM_002496.3:c.530C>T	NP_002487.1:p.Thr177Ile
XM_005274013.1:c.530C>T	XP_005274070.1:p.Thr177Ile
XM_005274014.1:c.530C>T	XP_005274071.1:p.Thr177Ile
XM_005274015.1:c.410C>T	XP_005274072.1:p.Thr137Ile
XM_011545053.1:c.530C>T	XP_011543355.1:p.Thr177Ile
NM_002496.4:c.530C>T MANE Select	NP_002487.1:p.Thr177Ile