Canonical Allele Identifier: CA381540493
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611421G>C , CM000673.2:g.67611421G>C GRCh38
NC_000011.9:g.67378892G>C , CM000673.1:g.67378892G>C GRCh37
NC_000011.8:g.67135468G>C NCBI36
NG_013353.1:g.9570G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000322776.11:c.932G>C MANE Select ENSP00000322450.6:p.Trp311Ser
ENST00000647561.1:c.932G>C ENSP00000497587.1:p.Trp311Ser
ENST00000322776.10:c.932G>C ENSP00000322450.6:p.Trp311Ser
ENST00000415352.6:c.911G>C ENSP00000395368.2:p.Trp304Ser
ENST00000526169.1:n.656-101G>C
ENST00000526770.5:n.1215G>C
ENST00000527355.5:c.221G>C ENSP00000432637.1:p.Trp74Ser
ENST00000527923.1:n.274G>C
ENST00000529927.5:c.905G>C ENSP00000436766.1:p.Trp302Ser
ENST00000532303.5:c.629G>C ENSP00000432015.1:p.Trp210Ser
ENST00000533919.5:c.392-56G>C ENSP00000435199.1:n.392-56G>C
NM_001166102.1:c.905G>C NP_001159574.1:p.Trp302Ser
NM_007103.3:c.932G>C NP_009034.2:p.Trp311Ser
NM_001166102.2:c.905G>C NP_001159574.1:p.Trp302Ser
NM_007103.4:c.932G>C MANE Select NP_009034.2:p.Trp311Ser