Canonical Allele Identifier: CA433628979
Gene: NDUFAF3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49059839C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49022406C>G , CM000665.2:g.49022406C>G GRCh38
NC_000003.11:g.49059839C>G , CM000665.1:g.49059839C>G GRCh37
NC_000003.10:g.49034843C>G NCBI36
NG_012091.1:g.12037G>C
NG_016282.1:g.6932C>G
NG_033126.1:g.3666G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326925.11:c.138C>G MANE Select ENSP00000323076.5:p.Arg46=
ENST00000326912.8:c.-34C>G ENSP00000323003.4:n.-34C>G
ENST00000326925.10:c.138C>G ENSP00000323076.5:p.Arg46=
ENST00000395458.6:c.-34C>G ENSP00000378843.2:n.-34C>G
ENST00000451378.2:c.-34C>G ENSP00000402465.2:n.-34C>G
ENST00000480392.1:n.162C>G
ENST00000496152.1:n.294C>G
NM_199069.1:c.138C>G NP_951032.1:p.Arg46=
NM_199070.1:c.-34C>G NP_951033.1:n.-34C>G
NM_199073.1:c.-34C>G NP_951047.1:n.-34C>G
NM_199074.1:c.-34C>G NP_951056.1:n.-34C>G
NM_199069.2:c.138C>G MANE Select NP_951032.1:p.Arg46=
NM_199070.2:c.-34C>G NP_951033.1:n.-34C>G
NM_199073.2:c.-34C>G NP_951047.1:n.-34C>G
NM_199074.2:c.-34C>G NP_951056.1:n.-34C>G