Canonical Allele Identifier: CA381537309
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67610538C>T , CM000673.2:g.67610538C>T GRCh38
NC_000011.9:g.67378009C>T , CM000673.1:g.67378009C>T GRCh37
NC_000011.8:g.67134585C>T NCBI36
NG_013353.1:g.8687C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.668C>T MANE Select ENSP00000322450.6:p.Pro223Leu
ENST00000647561.1:c.668C>T ENSP00000497587.1:p.Pro223Leu
ENST00000322776.10:c.668C>T ENSP00000322450.6:p.Pro223Leu
ENST00000415352.6:c.647C>T ENSP00000395368.2:p.Pro216Leu
ENST00000526169.1:n.410C>T
ENST00000526770.5:n.527C>T
ENST00000529927.5:c.641C>T ENSP00000436766.1:p.Pro214Leu
ENST00000532244.5:c.365C>T ENSP00000435202.1:p.Pro122Leu
ENST00000532303.5:c.365C>T ENSP00000432015.1:p.Pro122Leu
ENST00000533919.5:c.146C>T ENSP00000435199.1:p.Pro49Leu
NM_001166102.1:c.641C>T NP_001159574.1:p.Pro214Leu
NM_007103.3:c.668C>T NP_009034.2:p.Pro223Leu
NM_001166102.2:c.641C>T NP_001159574.1:p.Pro214Leu
NM_007103.4:c.668C>T MANE Select NP_009034.2:p.Pro223Leu