Canonical Allele Identifier: CA475441325

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68036318-C-T
• MyVariant Identifiers: chr11:g.67803785C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036318C>T , CM000673.2:g.68036318C>T	GRCh38
NC_000011.9:g.67803785C>T , CM000673.1:g.67803785C>T	GRCh37
NC_000011.8:g.67560361C>T	NCBI36
NG_007878.1:g.2303C>T , LRG_115:g.2303C>T
NG_017040.1:g.10702C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.438C>T MANE Select	ENSP00000315774.5:p.Asp146=
ENST00000313468.9:c.438C>T	ENSP00000315774.5:p.Asp146=
ENST00000524810.5:c.370C>T
ENST00000525419.5:c.384C>T	ENSP00000433521.1:p.Asp128=
ENST00000526339.5:c.438C>T	ENSP00000436287.1:p.Asp146=
ENST00000526446.5:c.*493C>T	ENSP00000433645.1:n.*493C>T
ENST00000528492.1:c.-1C>T	ENSP00000432848.1:n.-1C>T
ENST00000531282.1:n.290C>T
NM_002496.3:c.438C>T	NP_002487.1:p.Asp146=
XM_005274013.1:c.438C>T	XP_005274070.1:p.Asp146=
XM_005274014.1:c.438C>T	XP_005274071.1:p.Asp146=
XM_005274015.1:c.318C>T	XP_005274072.1:p.Asp106=
XM_011545053.1:c.438C>T	XP_011543355.1:p.Asp146=
NM_002496.4:c.438C>T MANE Select	NP_002487.1:p.Asp146=