Canonical Allele Identifier: CA433628972
Gene: NDUFAF3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49059833G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49022400G>T , CM000665.2:g.49022400G>T GRCh38
NC_000003.11:g.49059833G>T , CM000665.1:g.49059833G>T GRCh37
NC_000003.10:g.49034837G>T NCBI36
NG_012091.1:g.12043C>A
NG_016282.1:g.6926G>T
NG_033126.1:g.3672C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326925.11:c.132G>T MANE Select ENSP00000323076.5:p.Arg44=
ENST00000326912.8:c.-40G>T ENSP00000323003.4:n.-40G>T
ENST00000326925.10:c.132G>T ENSP00000323076.5:p.Arg44=
ENST00000395458.6:c.-40G>T ENSP00000378843.2:n.-40G>T
ENST00000451378.2:c.-40G>T ENSP00000402465.2:n.-40G>T
ENST00000480392.1:n.156G>T
ENST00000496152.1:n.288G>T
NM_199069.1:c.132G>T NP_951032.1:p.Arg44=
NM_199070.1:c.-40G>T NP_951033.1:n.-40G>T
NM_199073.1:c.-40G>T NP_951047.1:n.-40G>T
NM_199074.1:c.-40G>T NP_951056.1:n.-40G>T
NM_199069.2:c.132G>T MANE Select NP_951032.1:p.Arg44=
NM_199070.2:c.-40G>T NP_951033.1:n.-40G>T
NM_199073.2:c.-40G>T NP_951047.1:n.-40G>T
NM_199074.2:c.-40G>T NP_951056.1:n.-40G>T