Canonical Allele Identifier: CA381540478
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611417G>T , CM000673.2:g.67611417G>T GRCh38
NC_000011.9:g.67378888G>T , CM000673.1:g.67378888G>T GRCh37
NC_000011.8:g.67135464G>T NCBI36
NG_013353.1:g.9566G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000322776.11:c.928G>T MANE Select ENSP00000322450.6:p.Gly310Cys
ENST00000647561.1:c.928G>T ENSP00000497587.1:p.Gly310Cys
ENST00000322776.10:c.928G>T ENSP00000322450.6:p.Gly310Cys
ENST00000415352.6:c.907G>T ENSP00000395368.2:p.Gly303Cys
ENST00000526169.1:n.656-105G>T
ENST00000526770.5:n.1211G>T
ENST00000527355.5:c.217G>T ENSP00000432637.1:p.Gly73Cys
ENST00000527923.1:n.270G>T
ENST00000529927.5:c.901G>T ENSP00000436766.1:p.Gly301Cys
ENST00000532303.5:c.625G>T ENSP00000432015.1:p.Gly209Cys
ENST00000533919.5:c.392-60G>T ENSP00000435199.1:n.392-60G>T
NM_001166102.1:c.901G>T NP_001159574.1:p.Gly301Cys
NM_007103.3:c.928G>T NP_009034.2:p.Gly310Cys
NM_001166102.2:c.901G>T NP_001159574.1:p.Gly301Cys
NM_007103.4:c.928G>T MANE Select NP_009034.2:p.Gly310Cys