Canonical Allele Identifier: CA351276148

Gene: NDUFA10

Linked Data

• ClinVar Variation Id: 2011969
• ClinVar RCV Id: RCV002838806
• MyVariant Identifiers: chr2:g.240900554T>A (hg19) ; chr2:g.239961137T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.239961137T>A , CM000664.2:g.239961137T>A	GRCh38
NC_000002.11:g.240900554T>A , CM000664.1:g.240900554T>A	GRCh37
NC_000002.10:g.240549227T>A	NCBI36
NG_031855.1:g.69266A>T
NG_031855.2:g.69266A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252711.7:c.1049A>T MANE Select	ENSP00000252711.2:p.Lys350Met
ENST00000476216.6:n.4188A>T
ENST00000620965.5:c.1097A>T	ENSP00000480897.2:p.Lys366Met
ENST00000676491.1:c.1000-2100A>T	ENSP00000504528.1:n.1000-2100A>T
ENST00000676782.1:c.1000-22427A>T	ENSP00000504717.1:n.1000-22427A>T
ENST00000676929.1:c.1049A>T	ENSP00000503956.1:p.Lys350Met
ENST00000677057.1:n.4028+44073A>T
ENST00000677114.1:c.*443A>T	ENSP00000504818.1:n.*443A>T
ENST00000677155.1:c.*238A>T	ENSP00000502921.1:n.*238A>T
ENST00000677294.1:c.875A>T	ENSP00000503461.1:p.Lys292Met
ENST00000677324.1:n.3546A>T
ENST00000677395.1:c.*2745A>T	ENSP00000502890.1:n.*2745A>T
ENST00000677407.1:c.1000-10119A>T	ENSP00000503141.1:n.1000-10119A>T
ENST00000677567.1:c.1128A>T	ENSP00000503217.1:p.Gln376His
ENST00000677692.1:n.4078A>T
ENST00000677764.1:c.*360A>T	ENSP00000504547.1:n.*360A>T
ENST00000677979.1:c.*528A>T	ENSP00000503341.1:n.*528A>T
ENST00000678158.1:c.1049A>T	ENSP00000504765.1:p.Lys350Met
ENST00000678188.1:n.4270A>T
ENST00000678455.1:c.1046A>T	ENSP00000504395.1:p.Lys349Met
ENST00000678468.1:c.*587A>T	ENSP00000503925.1:n.*587A>T
ENST00000678562.1:c.*3884A>T	ENSP00000502954.1:n.*3884A>T
ENST00000678832.1:c.*705A>T	ENSP00000502992.1:n.*705A>T
ENST00000678914.1:c.947A>T	ENSP00000504515.1:p.Lys316Met
ENST00000679158.1:c.940A>T	ENSP00000503837.1:p.Ser314Cys
ENST00000679183.1:c.999+28937A>T	ENSP00000503016.1:n.999+28937A>T
ENST00000679308.1:c.*104A>T	ENSP00000503148.1:n.*104A>T
ENST00000252711.6:c.1049A>T	ENSP00000252711.2:p.Lys350Met
ENST00000404554.5:c.1154A>T	ENSP00000385697.1:p.Lys385Met
ENST00000419408.5:c.294+28937A>T	ENSP00000408055.1:n.294+28937A>T
ENST00000471378.1:n.82-2100A>T
ENST00000476216.5:n.411A>T
ENST00000485344.6:n.4113A>T
ENST00000620965.4:c.1049A>T	ENSP00000480897.1:p.Lys350Met
NM_004544.3:c.1049A>T	NP_004535.1:p.Lys350Met
XM_011511229.1:c.940A>T	XP_011509531.1:p.Ser314Cys
NM_001322020.1:c.940A>T	NP_001308949.1:p.Ser314Cys
NR_136155.1:n.4192A>T
NR_136156.1:n.4083A>T
NR_136157.1:n.4023A>T
NR_136158.1:n.4033+44073A>T
XR_001738750.2:n.1296A>T
NM_004544.4:c.1049A>T MANE Select	NP_004535.1:p.Lys350Met
NM_001322020.2:c.940A>T	NP_001308949.1:p.Ser314Cys
NR_136155.2:n.4132A>T
NR_136156.2:n.4023A>T
NR_136157.2:n.3963A>T
NR_136158.2:n.3973+44073A>T