Canonical Allele Identifier: CA6143377
Community Standard Title: NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=)
Gene: NDUFV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67611569G>A , CM000673.2:g.67611569G>A GRCh38
NC_000011.9:g.67379040G>A , CM000673.1:g.67379040G>A GRCh37
NC_000011.8:g.67135616G>A NCBI36
NG_013353.1:g.9718G>A

Transcript Alleles

HGVS Amino-acid Change
NM_007103.4:c.1080G>A MANE Select NP_009034.2:p.Ser360=
ENST00000322776.11:c.1080G>A MANE Select ENSP00000322450.6:p.Ser360=
NM_001166102.1:c.1053G>A NP_001159574.1:p.Ser351=
NM_001166102.2:c.1053G>A NP_001159574.1:p.Ser351=
NM_007103.3:c.1080G>A NP_009034.2:p.Ser360=
ENST00000322776.10:c.1080G>A ENSP00000322450.6:p.Ser360=
ENST00000415352.6:c.1059G>A ENSP00000395368.2:p.Ser353=
ENST00000526169.1:n.703G>A
ENST00000526770.5:n.1363G>A
ENST00000527355.5:c.369G>A ENSP00000432637.1:p.Ser123=
ENST00000527923.1:n.422G>A
ENST00000529927.5:c.1053G>A ENSP00000436766.1:p.Ser351=
ENST00000531250.1:n.17G>A
ENST00000532303.5:c.777G>A ENSP00000432015.1:p.Ser259=
ENST00000533919.5:c.484G>A ENSP00000435199.1:n.484G>A
ENST00000647561.1:c.1080G>A ENSP00000497587.1:p.Ser360=