Canonical Allele Identifier: CA381540485
Gene: NDUFV1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611418G>C , CM000673.2:g.67611418G>C GRCh38
NC_000011.9:g.67378889G>C , CM000673.1:g.67378889G>C GRCh37
NC_000011.8:g.67135465G>C NCBI36
NG_013353.1:g.9567G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000322776.11:c.929G>C MANE Select ENSP00000322450.6:p.Gly310Ala
ENST00000647561.1:c.929G>C ENSP00000497587.1:p.Gly310Ala
ENST00000322776.10:c.929G>C ENSP00000322450.6:p.Gly310Ala
ENST00000415352.6:c.908G>C ENSP00000395368.2:p.Gly303Ala
ENST00000526169.1:n.656-104G>C
ENST00000526770.5:n.1212G>C
ENST00000527355.5:c.218G>C ENSP00000432637.1:p.Gly73Ala
ENST00000527923.1:n.271G>C
ENST00000529927.5:c.902G>C ENSP00000436766.1:p.Gly301Ala
ENST00000532303.5:c.626G>C ENSP00000432015.1:p.Gly209Ala
ENST00000533919.5:c.392-59G>C ENSP00000435199.1:n.392-59G>C
NM_001166102.1:c.902G>C NP_001159574.1:p.Gly301Ala
NM_007103.3:c.929G>C NP_009034.2:p.Gly310Ala
NM_001166102.2:c.902G>C NP_001159574.1:p.Gly301Ala
NM_007103.4:c.929G>C MANE Select NP_009034.2:p.Gly310Ala