Canonical Allele Identifier: CA381540947
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611509T>A , CM000673.2:g.67611509T>A GRCh38
NC_000011.9:g.67378980T>A , CM000673.1:g.67378980T>A GRCh37
NC_000011.8:g.67135556T>A NCBI36
NG_013353.1:g.9658T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.1020T>A MANE Select ENSP00000322450.6:p.Asp340Glu
ENST00000647561.1:c.1020T>A ENSP00000497587.1:p.Asp340Glu
ENST00000322776.10:c.1020T>A ENSP00000322450.6:p.Asp340Glu
ENST00000415352.6:c.999T>A ENSP00000395368.2:p.Asp333Glu
ENST00000526169.1:n.656-13T>A
ENST00000526770.5:n.1303T>A
ENST00000527355.5:c.309T>A ENSP00000432637.1:p.Asp103Glu
ENST00000527923.1:n.362T>A
ENST00000529927.5:c.993T>A ENSP00000436766.1:p.Asp331Glu
ENST00000532303.5:c.717T>A ENSP00000432015.1:p.Asp239Glu
ENST00000533919.5:c.424T>A ENSP00000435199.1:n.424T>A
NM_001166102.1:c.993T>A NP_001159574.1:p.Asp331Glu
NM_007103.3:c.1020T>A NP_009034.2:p.Asp340Glu
NM_001166102.2:c.993T>A NP_001159574.1:p.Asp331Glu
NM_007103.4:c.1020T>A MANE Select NP_009034.2:p.Asp340Glu