Canonical Allele Identifier: CA475442419

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1349014582
• gnomAD v2: 11-67803824-C-T
• gnomAD v4: 11-68036357-C-T
• MyVariant Identifiers: chr11:g.67803824C>T (hg19) ; chr11:g.68036357C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036357C>T , CM000673.2:g.68036357C>T	GRCh38
NC_000011.9:g.67803824C>T , CM000673.1:g.67803824C>T	GRCh37
NC_000011.8:g.67560400C>T	NCBI36
NG_007878.1:g.2342C>T , LRG_115:g.2342C>T
NG_017040.1:g.10741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.477C>T MANE Select	ENSP00000315774.5:p.Ala159=
ENST00000313468.9:c.477C>T	ENSP00000315774.5:p.Ala159=
ENST00000524810.5:c.409C>T
ENST00000526339.5:c.477C>T	ENSP00000436287.1:p.Ala159=
ENST00000526446.5:c.*532C>T	ENSP00000433645.1:n.*532C>T
ENST00000528492.1:c.39C>T	ENSP00000432848.1:p.Ala13=
ENST00000531282.1:n.329C>T
NM_002496.3:c.477C>T	NP_002487.1:p.Ala159=
XM_005274013.1:c.477C>T	XP_005274070.1:p.Ala159=
XM_005274014.1:c.477C>T	XP_005274071.1:p.Ala159=
XM_005274015.1:c.357C>T	XP_005274072.1:p.Ala119=
XM_011545053.1:c.477C>T	XP_011543355.1:p.Ala159=
NM_002496.4:c.477C>T MANE Select	NP_002487.1:p.Ala159=