Canonical Allele Identifier: CA322246

Gene: NDUFS8

Linked Data

• ClinVar Variation Id: 214838
• ClinVar RCV Id: RCV000197784
• dbSNP Id: rs863224115
• MyVariant Identifiers: chr11:g.67803775A>T (hg19) ; chr11:g.68036308A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036308A>T , CM000673.2:g.68036308A>T	GRCh38
NC_000011.9:g.67803775A>T , CM000673.1:g.67803775A>T	GRCh37
NC_000011.8:g.67560351A>T	NCBI36
NG_007878.1:g.2293A>T , LRG_115:g.2293A>T
NG_017040.1:g.10692A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.428A>T MANE Select	ENSP00000315774.5:p.Tyr143Phe
ENST00000313468.9:c.428A>T	ENSP00000315774.5:p.Tyr143Phe
ENST00000524810.5:c.360A>T
ENST00000525419.5:c.374A>T	ENSP00000433521.1:p.Tyr125Phe
ENST00000526339.5:c.428A>T	ENSP00000436287.1:p.Tyr143Phe
ENST00000526446.5:c.*483A>T	ENSP00000433645.1:n.*483A>T
ENST00000528492.1:c.-11A>T	ENSP00000432848.1:n.-11A>T
ENST00000531282.1:n.280A>T
NM_002496.3:c.428A>T	NP_002487.1:p.Tyr143Phe
XM_005274013.1:c.428A>T	XP_005274070.1:p.Tyr143Phe
XM_005274014.1:c.428A>T	XP_005274071.1:p.Tyr143Phe
XM_005274015.1:c.308A>T	XP_005274072.1:p.Tyr103Phe
XM_011545053.1:c.428A>T	XP_011543355.1:p.Tyr143Phe
NM_002496.4:c.428A>T MANE Select	NP_002487.1:p.Tyr143Phe