Canonical Allele Identifier: CA6143223

Gene: NDUFV1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67610467C>T , CM000673.2:g.67610467C>T	GRCh38
NC_000011.9:g.67377938C>T , CM000673.1:g.67377938C>T	GRCh37
NC_000011.8:g.67134514C>T	NCBI36
NG_013353.1:g.8616C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007103.4:c.597C>T MANE Select	NP_009034.2:p.Arg199=
ENST00000322776.11:c.597C>T MANE Select	ENSP00000322450.6:p.Arg199=
NM_001166102.1:c.570C>T	NP_001159574.1:p.Arg190=
NM_001166102.2:c.570C>T	NP_001159574.1:p.Arg190=
NM_007103.3:c.597C>T	NP_009034.2:p.Arg199=
ENST00000322776.10:c.597C>T	ENSP00000322450.6:p.Arg199=
ENST00000415352.6:c.576C>T	ENSP00000395368.2:p.Arg192=
ENST00000526169.1:n.339C>T
ENST00000526770.5:n.456C>T
ENST00000529927.5:c.570C>T	ENSP00000436766.1:p.Arg190=
ENST00000532244.5:c.294C>T	ENSP00000435202.1:p.Arg98=
ENST00000532303.5:c.294C>T	ENSP00000432015.1:p.Arg98=
ENST00000533919.5:c.75C>T	ENSP00000435199.1:p.Arg25=
ENST00000647561.1:c.597C>T	ENSP00000497587.1:p.Arg199=