Canonical Allele Identifier: CA224241309

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1025055587
• gnomAD v2: 11-67800426-A-T
• gnomAD v4: 11-68032959-A-T
• MyVariant Identifiers: chr11:g.67800426A>T (hg19) ; chr11:g.68032959A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68032959A>T , CM000673.2:g.68032959A>T	GRCh38
NC_000011.9:g.67800426A>T , CM000673.1:g.67800426A>T	GRCh37
NC_000011.8:g.67557002A>T	NCBI36
NG_017040.1:g.7343A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.146A>T MANE Select	ENSP00000315774.5:p.Lys49Met
ENST00000313468.9:c.146A>T	ENSP00000315774.5:p.Lys49Met
ENST00000432321.6:n.263A>T
ENST00000453471.6:c.146A>T	ENSP00000403972.2:p.Lys49Met
ENST00000525419.5:c.92A>T	ENSP00000433521.1:p.Lys31Met
ENST00000525628.1:c.146A>T	ENSP00000432968.1:p.Lys49Met
ENST00000526339.5:c.146A>T	ENSP00000436287.1:p.Lys49Met
ENST00000526446.5:c.*201A>T	ENSP00000433645.1:n.*201A>T
ENST00000528492.1:c.-67+2226A>T	ENSP00000432848.1:n.-67+2226A>T
ENST00000529645.1:c.324A>T	ENSP00000431293.1:n.324A>T
ENST00000531228.1:c.201A>T	ENSP00000433054.1:p.Glu67Asp
ENST00000532399.1:n.753A>T
NM_002496.3:c.146A>T	NP_002487.1:p.Lys49Met
XM_005274013.1:c.146A>T	XP_005274070.1:p.Lys49Met
XM_005274014.1:c.146A>T	XP_005274071.1:p.Lys49Met
XM_005274015.1:c.26A>T	XP_005274072.1:p.Lys9Met
XM_011545053.1:c.146A>T	XP_011543355.1:p.Lys49Met
NM_002496.4:c.146A>T MANE Select	NP_002487.1:p.Lys49Met