Canonical Allele Identifier: CA381540972
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611522G>A , CM000673.2:g.67611522G>A GRCh38
NC_000011.9:g.67378993G>A , CM000673.1:g.67378993G>A GRCh37
NC_000011.8:g.67135569G>A NCBI36
NG_013353.1:g.9671G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000322776.11:c.1033G>A MANE Select ENSP00000322450.6:p.Ala345Thr
ENST00000647561.1:c.1033G>A ENSP00000497587.1:p.Ala345Thr
ENST00000322776.10:c.1033G>A ENSP00000322450.6:p.Ala345Thr
ENST00000415352.6:c.1012G>A ENSP00000395368.2:p.Ala338Thr
ENST00000526169.1:n.656G>A
ENST00000526770.5:n.1316G>A
ENST00000527355.5:c.322G>A ENSP00000432637.1:p.Ala108Thr
ENST00000527923.1:n.375G>A
ENST00000529927.5:c.1006G>A ENSP00000436766.1:p.Ala336Thr
ENST00000532303.5:c.730G>A ENSP00000432015.1:p.Ala244Thr
ENST00000533919.5:c.437G>A ENSP00000435199.1:n.437G>A
NM_001166102.1:c.1006G>A NP_001159574.1:p.Ala336Thr
NM_007103.3:c.1033G>A NP_009034.2:p.Ala345Thr
NM_001166102.2:c.1006G>A NP_001159574.1:p.Ala336Thr
NM_007103.4:c.1033G>A MANE Select NP_009034.2:p.Ala345Thr