Canonical Allele Identifier: CA381540795
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611474A>T , CM000673.2:g.67611474A>T GRCh38
NC_000011.9:g.67378945A>T , CM000673.1:g.67378945A>T GRCh37
NC_000011.8:g.67135521A>T NCBI36
NG_013353.1:g.9623A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322776.11:c.985A>T MANE Select ENSP00000322450.6:p.Lys329Ter
ENST00000647561.1:c.985A>T ENSP00000497587.1:p.Lys329Ter
ENST00000322776.10:c.985A>T ENSP00000322450.6:p.Lys329Ter
ENST00000415352.6:c.964A>T ENSP00000395368.2:p.Lys322Ter
ENST00000526169.1:n.656-48A>T
ENST00000526770.5:n.1268A>T
ENST00000527355.5:c.274A>T ENSP00000432637.1:p.Lys92Ter
ENST00000527923.1:n.327A>T
ENST00000529927.5:c.958A>T ENSP00000436766.1:p.Lys320Ter
ENST00000532303.5:c.682A>T ENSP00000432015.1:p.Lys228Ter
ENST00000533919.5:c.392-3A>T ENSP00000435199.1:n.392-3A>T
NM_001166102.1:c.958A>T NP_001159574.1:p.Lys320Ter
NM_007103.3:c.985A>T NP_009034.2:p.Lys329Ter
NM_001166102.2:c.958A>T NP_001159574.1:p.Lys320Ter
NM_007103.4:c.985A>T MANE Select NP_009034.2:p.Lys329Ter