Canonical Allele Identifier: CA381536442
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67610391G>C , CM000673.2:g.67610391G>C GRCh38
NC_000011.9:g.67377862G>C , CM000673.1:g.67377862G>C GRCh37
NC_000011.8:g.67134438G>C NCBI36
NG_013353.1:g.8540G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.521G>C MANE Select ENSP00000322450.6:p.Arg174Pro
ENST00000647561.1:c.521G>C ENSP00000497587.1:p.Arg174Pro
ENST00000322776.10:c.521G>C ENSP00000322450.6:p.Arg174Pro
ENST00000415352.6:c.500G>C ENSP00000395368.2:p.Arg167Pro
ENST00000526169.1:n.263G>C
ENST00000526770.5:n.380G>C
ENST00000529867.5:c.485G>C ENSP00000434438.1:p.Arg162Pro
ENST00000529927.5:c.494G>C ENSP00000436766.1:p.Arg165Pro
ENST00000530638.1:c.404G>C ENSP00000436936.1:p.Arg135Pro
ENST00000532244.5:c.218G>C ENSP00000435202.1:p.Arg73Pro
ENST00000532303.5:c.218G>C ENSP00000432015.1:p.Arg73Pro
ENST00000532343.5:c.218G>C ENSP00000431751.1:p.Arg73Pro
ENST00000533075.5:c.500G>C ENSP00000437267.1:p.Arg167Pro
NM_001166102.1:c.494G>C NP_001159574.1:p.Arg165Pro
NM_007103.3:c.521G>C NP_009034.2:p.Arg174Pro
NM_001166102.2:c.494G>C NP_001159574.1:p.Arg165Pro
NM_007103.4:c.521G>C MANE Select NP_009034.2:p.Arg174Pro