Canonical Allele Identifier: CA352728590

Gene: NDUFAF3

Linked Data

• MyVariant Identifiers: chr3:g.49059945C>G (hg19) ; chr3:g.49022512C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022512C>G , CM000665.2:g.49022512C>G	GRCh38
NC_000003.11:g.49059945C>G , CM000665.1:g.49059945C>G	GRCh37
NC_000003.10:g.49034949C>G	NCBI36
NG_012091.1:g.11931G>C
NG_016282.1:g.7038C>G
NG_033126.1:g.3560G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.244C>G MANE Select	ENSP00000323076.5:p.Leu82Val
ENST00000326912.8:c.73C>G	ENSP00000323003.4:p.Leu25Val
ENST00000326925.10:c.244C>G	ENSP00000323076.5:p.Leu82Val
ENST00000395458.6:c.73C>G	ENSP00000378843.2:p.Leu25Val
ENST00000451378.2:c.73C>G	ENSP00000402465.2:p.Leu25Val
ENST00000480392.1:n.268C>G
ENST00000496152.1:n.400C>G
NM_199069.1:c.244C>G	NP_951032.1:p.Leu82Val
NM_199070.1:c.73C>G	NP_951033.1:p.Leu25Val
NM_199073.1:c.73C>G	NP_951047.1:p.Leu25Val
NM_199074.1:c.73C>G	NP_951056.1:p.Leu25Val
NM_199069.2:c.244C>G MANE Select	NP_951032.1:p.Leu82Val
NM_199070.2:c.73C>G	NP_951033.1:p.Leu25Val
NM_199073.2:c.73C>G	NP_951047.1:p.Leu25Val
NM_199074.2:c.73C>G	NP_951056.1:p.Leu25Val