Canonical Allele Identifier: CA351272887

Gene: NDUFA10

Linked Data

• dbSNP Id: rs1224284095
• gnomAD v2: 2-240954234-A-T
• MyVariant Identifiers: chr2:g.240954234A>T (hg19) ; chr2:g.240014817A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240014817A>T , CM000664.2:g.240014817A>T	GRCh38
NC_000002.11:g.240954234A>T , CM000664.1:g.240954234A>T	GRCh37
NC_000002.10:g.240602907A>T	NCBI36
NG_031855.1:g.15586T>A
NG_031855.2:g.15586T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252711.7:c.591T>A MANE Select	ENSP00000252711.2:p.Asp197Glu
ENST00000414580.2:c.*137T>A	ENSP00000388413.2:n.*137T>A
ENST00000444548.6:c.591T>A	ENSP00000403080.2:p.Asp197Glu
ENST00000448880.6:c.591T>A	ENSP00000408224.2:p.Asp197Glu
ENST00000476216.6:n.688T>A
ENST00000620965.5:c.591T>A	ENSP00000480897.2:p.Asp197Glu
ENST00000676491.1:c.591T>A	ENSP00000504528.1:p.Asp197Glu
ENST00000676782.1:c.591T>A	ENSP00000504717.1:p.Asp197Glu
ENST00000676784.1:n.677T>A
ENST00000676929.1:c.591T>A	ENSP00000503956.1:p.Asp197Glu
ENST00000677057.1:n.687T>A
ENST00000677114.1:c.547+3736T>A	ENSP00000504818.1:n.547+3736T>A
ENST00000677155.1:c.547+3736T>A	ENSP00000502921.1:n.547+3736T>A
ENST00000677263.1:c.591T>A	ENSP00000503790.1:p.Asp197Glu
ENST00000677294.1:c.591T>A	ENSP00000503461.1:p.Asp197Glu
ENST00000677368.1:c.547+3736T>A	ENSP00000502983.1:n.547+3736T>A
ENST00000677395.1:c.591T>A	ENSP00000502890.1:p.Asp197Glu
ENST00000677407.1:c.591T>A	ENSP00000503141.1:p.Asp197Glu
ENST00000677490.1:c.591T>A	ENSP00000503255.1:p.Asp197Glu
ENST00000677567.1:c.591T>A	ENSP00000503217.1:p.Asp197Glu
ENST00000677692.1:n.687T>A
ENST00000677764.1:c.591T>A	ENSP00000504547.1:p.Asp197Glu
ENST00000677979.1:c.*70T>A	ENSP00000503341.1:n.*70T>A
ENST00000678158.1:c.591T>A	ENSP00000504765.1:p.Asp197Glu
ENST00000678188.1:n.770T>A
ENST00000678289.1:c.591T>A	ENSP00000504063.1:p.Asp197Glu
ENST00000678455.1:c.588T>A	ENSP00000504395.1:p.Asp196Glu
ENST00000678468.1:c.591T>A	ENSP00000503925.1:p.Asp197Glu
ENST00000678562.1:c.*384T>A	ENSP00000502954.1:n.*384T>A
ENST00000678737.1:c.591T>A	ENSP00000503770.1:p.Asp197Glu
ENST00000678832.1:c.*247T>A	ENSP00000502992.1:n.*247T>A
ENST00000678898.1:n.687T>A
ENST00000678914.1:c.567+24T>A	ENSP00000504515.1:n.567+24T>A
ENST00000679158.1:c.591T>A	ENSP00000503837.1:p.Asp197Glu
ENST00000679183.1:c.591T>A	ENSP00000503016.1:p.Asp197Glu
ENST00000679308.1:c.591T>A	ENSP00000503148.1:p.Asp197Glu
ENST00000679332.1:n.687T>A
ENST00000252711.6:c.591T>A	ENSP00000252711.2:p.Asp197Glu
ENST00000307300.8:c.711T>A	ENSP00000302321.4:p.Asp237Glu
ENST00000404554.5:c.591T>A	ENSP00000385697.1:p.Asp197Glu
ENST00000414580.1:c.*247T>A	ENSP00000388413.1:n.*247T>A
ENST00000443626.5:c.547+3736T>A	ENSP00000411527.1:n.547+3736T>A
ENST00000485344.6:n.613T>A
ENST00000620965.4:c.591T>A	ENSP00000480897.1:p.Asp197Glu
NM_004544.3:c.591T>A	NP_004535.1:p.Asp197Glu
XM_006712543.1:c.591T>A	XP_006712606.1:p.Asp197Glu
XM_011511228.1:c.591T>A	XP_011509530.1:p.Asp197Glu
XM_011511229.1:c.591T>A	XP_011509531.1:p.Asp197Glu
NM_001322019.1:c.591T>A	NP_001308948.1:p.Asp197Glu
NM_001322020.1:c.591T>A	NP_001308949.1:p.Asp197Glu
NR_136155.1:n.692T>A
NR_136156.1:n.692T>A
NR_136157.1:n.523T>A
NR_136158.1:n.692T>A
XM_011511228.3:c.591T>A	XP_011509530.1:p.Asp197Glu
XR_001738750.2:n.633T>A
NM_004544.4:c.591T>A MANE Select	NP_004535.1:p.Asp197Glu
NM_001322020.2:c.591T>A	NP_001308949.1:p.Asp197Glu
NR_136155.2:n.632T>A
NR_136156.2:n.632T>A
NR_136157.2:n.463T>A
NR_136158.2:n.632T>A
NM_001322019.2:c.591T>A	NP_001308948.1:p.Asp197Glu