Canonical Allele Identifier: CA352728025

Gene: NDUFAF3

Linked Data

• dbSNP Id: rs1206415663
• gnomAD v4: 3-49022456-A-G
• MyVariant Identifiers: chr3:g.49059889A>G (hg19) ; chr3:g.49022456A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022456A>G , CM000665.2:g.49022456A>G	GRCh38
NC_000003.11:g.49059889A>G , CM000665.1:g.49059889A>G	GRCh37
NC_000003.10:g.49034893A>G	NCBI36
NG_012091.1:g.11987T>C
NG_016282.1:g.6982A>G
NG_033126.1:g.3616T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.188A>G MANE Select	ENSP00000323076.5:p.Tyr63Cys
ENST00000326912.8:c.17A>G	ENSP00000323003.4:p.Tyr6Cys
ENST00000326925.10:c.188A>G	ENSP00000323076.5:p.Tyr63Cys
ENST00000395458.6:c.17A>G	ENSP00000378843.2:p.Tyr6Cys
ENST00000451378.2:c.17A>G	ENSP00000402465.2:p.Tyr6Cys
ENST00000480392.1:n.212A>G
ENST00000496152.1:n.344A>G
NM_199069.1:c.188A>G	NP_951032.1:p.Tyr63Cys
NM_199070.1:c.17A>G	NP_951033.1:p.Tyr6Cys
NM_199073.1:c.17A>G	NP_951047.1:p.Tyr6Cys
NM_199074.1:c.17A>G	NP_951056.1:p.Tyr6Cys
NM_199069.2:c.188A>G MANE Select	NP_951032.1:p.Tyr63Cys
NM_199070.2:c.17A>G	NP_951033.1:p.Tyr6Cys
NM_199073.2:c.17A>G	NP_951047.1:p.Tyr6Cys
NM_199074.2:c.17A>G	NP_951056.1:p.Tyr6Cys