Canonical Allele Identifier: CA6143185

Gene: NDUFV1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67609624T>G , CM000673.2:g.67609624T>G	GRCh38
NC_000011.9:g.67377095T>G , CM000673.1:g.67377095T>G	GRCh37
NC_000011.8:g.67133671T>G	NCBI36
NG_013353.1:g.7773T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007103.4:c.499T>G MANE Select	NP_009034.2:p.Ser167Ala
ENST00000322776.11:c.499T>G MANE Select	ENSP00000322450.6:p.Ser167Ala
NM_001166102.1:c.472T>G	NP_001159574.1:p.Ser158Ala
NM_001166102.2:c.472T>G	NP_001159574.1:p.Ser158Ala
NM_007103.3:c.499T>G	NP_009034.2:p.Ser167Ala
ENST00000322776.10:c.499T>G	ENSP00000322450.6:p.Ser167Ala
ENST00000415352.6:c.478T>G	ENSP00000395368.2:p.Ser160Ala
ENST00000524838.5:n.556T>G
ENST00000525086.5:n.572T>G
ENST00000526169.1:n.241T>G
ENST00000526770.5:n.358T>G
ENST00000528377.1:n.670T>G
ENST00000529867.5:c.463T>G	ENSP00000434438.1:p.Ser155Ala
ENST00000529927.5:c.472T>G	ENSP00000436766.1:p.Ser158Ala
ENST00000530638.1:c.382T>G	ENSP00000436936.1:p.Ser128Ala
ENST00000532244.5:c.196T>G	ENSP00000435202.1:p.Ser66Ala
ENST00000532303.5:c.196T>G	ENSP00000432015.1:p.Ser66Ala
ENST00000532343.5:c.196T>G	ENSP00000431751.1:p.Ser66Ala
ENST00000533075.5:c.478T>G	ENSP00000437267.1:p.Ser160Ala
ENST00000534139.5:n.615T>G
ENST00000647561.1:c.499T>G	ENSP00000497587.1:p.Ser167Ala