Canonical Allele Identifier: CA381540954
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611513C>A , CM000673.2:g.67611513C>A GRCh38
NC_000011.9:g.67378984C>A , CM000673.1:g.67378984C>A GRCh37
NC_000011.8:g.67135560C>A NCBI36
NG_013353.1:g.9662C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000322776.11:c.1024C>A MANE Select ENSP00000322450.6:p.Leu342Met
ENST00000647561.1:c.1024C>A ENSP00000497587.1:p.Leu342Met
ENST00000322776.10:c.1024C>A ENSP00000322450.6:p.Leu342Met
ENST00000415352.6:c.1003C>A ENSP00000395368.2:p.Leu335Met
ENST00000526169.1:n.656-9C>A
ENST00000526770.5:n.1307C>A
ENST00000527355.5:c.313C>A ENSP00000432637.1:p.Leu105Met
ENST00000527923.1:n.366C>A
ENST00000529927.5:c.997C>A ENSP00000436766.1:p.Leu333Met
ENST00000532303.5:c.721C>A ENSP00000432015.1:p.Leu241Met
ENST00000533919.5:c.428C>A ENSP00000435199.1:n.428C>A
NM_001166102.1:c.997C>A NP_001159574.1:p.Leu333Met
NM_007103.3:c.1024C>A NP_009034.2:p.Leu342Met
NM_001166102.2:c.997C>A NP_001159574.1:p.Leu333Met
NM_007103.4:c.1024C>A MANE Select NP_009034.2:p.Leu342Met