Canonical Allele Identifier: CA2614684775

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68033430-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033430G>A , CM000673.2:g.68033430G>A	GRCh38
NC_000011.9:g.67800897G>A , CM000673.1:g.67800897G>A	GRCh37
NC_000011.8:g.67557473G>A	NCBI36
NG_017040.1:g.7814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.372+147G>A MANE Select	ENSP00000315774.5:n.372+147G>A
ENST00000313468.9:c.372+147G>A	ENSP00000315774.5:n.372+147G>A
ENST00000432321.6:n.636G>A
ENST00000524810.5:c.143+147G>A
ENST00000525419.5:c.318+147G>A	ENSP00000433521.1:n.318+147G>A
ENST00000526339.5:c.372+147G>A	ENSP00000436287.1:n.372+147G>A
ENST00000526446.5:c.*427+147G>A	ENSP00000433645.1:n.*427+147G>A
ENST00000528492.1:c.-67+2697G>A	ENSP00000432848.1:n.-67+2697G>A
ENST00000529645.1:c.550+147G>A	ENSP00000431293.1:n.550+147G>A
ENST00000532399.1:n.1224G>A
NM_002496.3:c.372+147G>A	NP_002487.1:n.372+147G>A
XM_005274013.1:c.372+147G>A	XP_005274070.1:n.372+147G>A
XM_005274014.1:c.372+147G>A	XP_005274071.1:n.372+147G>A
XM_005274015.1:c.252+147G>A	XP_005274072.1:n.252+147G>A
XM_011545053.1:c.372+147G>A	XP_011543355.1:n.372+147G>A
NM_002496.4:c.372+147G>A MANE Select	NP_002487.1:n.372+147G>A