Canonical Allele Identifier: CA352728412

Gene: NDUFAF3

Linked Data

• MyVariant Identifiers: chr3:g.49059928T>A (hg19) ; chr3:g.49022495T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022495T>A , CM000665.2:g.49022495T>A	GRCh38
NC_000003.11:g.49059928T>A , CM000665.1:g.49059928T>A	GRCh37
NC_000003.10:g.49034932T>A	NCBI36
NG_012091.1:g.11948A>T
NG_016282.1:g.7021T>A
NG_033126.1:g.3577A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.227T>A MANE Select	ENSP00000323076.5:p.Leu76His
ENST00000326912.8:c.56T>A	ENSP00000323003.4:p.Leu19His
ENST00000326925.10:c.227T>A	ENSP00000323076.5:p.Leu76His
ENST00000395458.6:c.56T>A	ENSP00000378843.2:p.Leu19His
ENST00000451378.2:c.56T>A	ENSP00000402465.2:p.Leu19His
ENST00000480392.1:n.251T>A
ENST00000496152.1:n.383T>A
NM_199069.1:c.227T>A	NP_951032.1:p.Leu76His
NM_199070.1:c.56T>A	NP_951033.1:p.Leu19His
NM_199073.1:c.56T>A	NP_951047.1:p.Leu19His
NM_199074.1:c.56T>A	NP_951056.1:p.Leu19His
NM_199069.2:c.227T>A MANE Select	NP_951032.1:p.Leu76His
NM_199070.2:c.56T>A	NP_951033.1:p.Leu19His
NM_199073.2:c.56T>A	NP_951047.1:p.Leu19His
NM_199074.2:c.56T>A	NP_951056.1:p.Leu19His