Canonical Allele Identifier: CA381540836
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611486G>T , CM000673.2:g.67611486G>T GRCh38
NC_000011.9:g.67378957G>T , CM000673.1:g.67378957G>T GRCh37
NC_000011.8:g.67135533G>T NCBI36
NG_013353.1:g.9635G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.997G>T MANE Select ENSP00000322450.6:p.Glu333Ter
ENST00000647561.1:c.997G>T ENSP00000497587.1:p.Glu333Ter
ENST00000322776.10:c.997G>T ENSP00000322450.6:p.Glu333Ter
ENST00000415352.6:c.976G>T ENSP00000395368.2:p.Glu326Ter
ENST00000526169.1:n.656-36G>T
ENST00000526770.5:n.1280G>T
ENST00000527355.5:c.286G>T ENSP00000432637.1:p.Glu96Ter
ENST00000527923.1:n.339G>T
ENST00000529927.5:c.970G>T ENSP00000436766.1:p.Glu324Ter
ENST00000532303.5:c.694G>T ENSP00000432015.1:p.Glu232Ter
ENST00000533919.5:c.401G>T ENSP00000435199.1:p.Ter134Leu
NM_001166102.1:c.970G>T NP_001159574.1:p.Glu324Ter
NM_007103.3:c.997G>T NP_009034.2:p.Glu333Ter
NM_001166102.2:c.970G>T NP_001159574.1:p.Glu324Ter
NM_007103.4:c.997G>T MANE Select NP_009034.2:p.Glu333Ter