Canonical Allele Identifier: CA352727419

Gene: NDUFAF3

Linked Data

• MyVariant Identifiers: chr3:g.49059830G>T (hg19) ; chr3:g.49022397G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022397G>T , CM000665.2:g.49022397G>T	GRCh38
NC_000003.11:g.49059830G>T , CM000665.1:g.49059830G>T	GRCh37
NC_000003.10:g.49034834G>T	NCBI36
NG_012091.1:g.12046C>A
NG_016282.1:g.6923G>T
NG_033126.1:g.3675C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326925.11:c.129G>T MANE Select	ENSP00000323076.5:p.Gln43His
ENST00000326912.8:c.-43G>T	ENSP00000323003.4:n.-43G>T
ENST00000326925.10:c.129G>T	ENSP00000323076.5:p.Gln43His
ENST00000395458.6:c.-43G>T	ENSP00000378843.2:n.-43G>T
ENST00000451378.2:c.-43G>T	ENSP00000402465.2:n.-43G>T
ENST00000480392.1:n.153G>T
ENST00000496152.1:n.285G>T
NM_199069.1:c.129G>T	NP_951032.1:p.Gln43His
NM_199070.1:c.-43G>T	NP_951033.1:n.-43G>T
NM_199073.1:c.-43G>T	NP_951047.1:n.-43G>T
NM_199074.1:c.-43G>T	NP_951056.1:n.-43G>T
NM_199069.2:c.129G>T MANE Select	NP_951032.1:p.Gln43His
NM_199070.2:c.-43G>T	NP_951033.1:n.-43G>T
NM_199073.2:c.-43G>T	NP_951047.1:n.-43G>T
NM_199074.2:c.-43G>T	NP_951056.1:n.-43G>T