Canonical Allele Identifier: CA381599013

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68032934-A-T
• MyVariant Identifiers: chr11:g.67800401A>T (hg19) ; chr11:g.68032934A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68032934A>T , CM000673.2:g.68032934A>T	GRCh38
NC_000011.9:g.67800401A>T , CM000673.1:g.67800401A>T	GRCh37
NC_000011.8:g.67556977A>T	NCBI36
NG_017040.1:g.7318A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.121A>T MANE Select	ENSP00000315774.5:p.Met41Leu
ENST00000313468.9:c.121A>T	ENSP00000315774.5:p.Met41Leu
ENST00000432321.6:n.238A>T
ENST00000453471.6:c.121A>T	ENSP00000403972.2:p.Met41Leu
ENST00000525419.5:c.67A>T	ENSP00000433521.1:p.Met23Leu
ENST00000525628.1:c.121A>T	ENSP00000432968.1:p.Met41Leu
ENST00000526339.5:c.121A>T	ENSP00000436287.1:p.Met41Leu
ENST00000526446.5:c.*176A>T	ENSP00000433645.1:n.*176A>T
ENST00000528492.1:c.-67+2201A>T	ENSP00000432848.1:n.-67+2201A>T
ENST00000529645.1:c.299A>T	ENSP00000431293.1:n.299A>T
ENST00000531228.1:c.176A>T	ENSP00000433054.1:p.His59Leu
ENST00000532399.1:n.728A>T
NM_002496.3:c.121A>T	NP_002487.1:p.Met41Leu
XM_005274013.1:c.121A>T	XP_005274070.1:p.Met41Leu
XM_005274014.1:c.121A>T	XP_005274071.1:p.Met41Leu
XM_005274015.1:c.1A>T	XP_005274072.1:p.Met1Leu
XM_011545053.1:c.121A>T	XP_011543355.1:p.Met41Leu
NM_002496.4:c.121A>T MANE Select	NP_002487.1:p.Met41Leu