Canonical Allele Identifier: CA381537183
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67610520A>T , CM000673.2:g.67610520A>T GRCh38
NC_000011.9:g.67377991A>T , CM000673.1:g.67377991A>T GRCh37
NC_000011.8:g.67134567A>T NCBI36
NG_013353.1:g.8669A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.650A>T MANE Select ENSP00000322450.6:p.Glu217Val
ENST00000647561.1:c.650A>T ENSP00000497587.1:p.Glu217Val
ENST00000322776.10:c.650A>T ENSP00000322450.6:p.Glu217Val
ENST00000415352.6:c.629A>T ENSP00000395368.2:p.Glu210Val
ENST00000526169.1:n.392A>T
ENST00000526770.5:n.509A>T
ENST00000529927.5:c.623A>T ENSP00000436766.1:p.Glu208Val
ENST00000532244.5:c.347A>T ENSP00000435202.1:p.Glu116Val
ENST00000532303.5:c.347A>T ENSP00000432015.1:p.Glu116Val
ENST00000533919.5:c.128A>T ENSP00000435199.1:p.Glu43Val
NM_001166102.1:c.623A>T NP_001159574.1:p.Glu208Val
NM_007103.3:c.650A>T NP_009034.2:p.Glu217Val
NM_001166102.2:c.623A>T NP_001159574.1:p.Glu208Val
NM_007103.4:c.650A>T MANE Select NP_009034.2:p.Glu217Val