Canonical Allele Identifier: CA381540906
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611501G>C , CM000673.2:g.67611501G>C GRCh38
NC_000011.9:g.67378972G>C , CM000673.1:g.67378972G>C GRCh37
NC_000011.8:g.67135548G>C NCBI36
NG_013353.1:g.9650G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.1012G>C MANE Select ENSP00000322450.6:p.Asp338His
ENST00000647561.1:c.1012G>C ENSP00000497587.1:p.Asp338His
ENST00000322776.10:c.1012G>C ENSP00000322450.6:p.Asp338His
ENST00000415352.6:c.991G>C ENSP00000395368.2:p.Asp331His
ENST00000526169.1:n.656-21G>C
ENST00000526770.5:n.1295G>C
ENST00000527355.5:c.301G>C ENSP00000432637.1:p.Asp101His
ENST00000527923.1:n.354G>C
ENST00000529927.5:c.985G>C ENSP00000436766.1:p.Asp329His
ENST00000532303.5:c.709G>C ENSP00000432015.1:p.Asp237His
ENST00000533919.5:c.416G>C ENSP00000435199.1:n.416G>C
NM_001166102.1:c.985G>C NP_001159574.1:p.Asp329His
NM_007103.3:c.1012G>C NP_009034.2:p.Asp338His
NM_001166102.2:c.985G>C NP_001159574.1:p.Asp329His
NM_007103.4:c.1012G>C MANE Select NP_009034.2:p.Asp338His