Canonical Allele Identifier: CA2577592668

Gene: NDUFAF3

Linked Data

• gnomAD v4: 3-49022565-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022565C>T , CM000665.2:g.49022565C>T	GRCh38
NC_000003.11:g.49059998C>T , CM000665.1:g.49059998C>T	GRCh37
NC_000003.10:g.49035002C>T	NCBI36
NG_012091.1:g.11878G>A
NG_016282.1:g.7091C>T
NG_033126.1:g.3507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.270+27C>T MANE Select	ENSP00000323076.5:n.270+27C>T
ENST00000326912.8:c.99+27C>T	ENSP00000323003.4:n.99+27C>T
ENST00000326925.10:c.270+27C>T	ENSP00000323076.5:n.270+27C>T
ENST00000395458.6:c.99+27C>T	ENSP00000378843.2:n.99+27C>T
ENST00000451378.2:c.99+27C>T	ENSP00000402465.2:n.99+27C>T
ENST00000480392.1:n.294+27C>T
ENST00000496152.1:n.426+27C>T
NM_199069.1:c.270+27C>T	NP_951032.1:n.270+27C>T
NM_199070.1:c.99+27C>T	NP_951033.1:n.99+27C>T
NM_199073.1:c.99+27C>T	NP_951047.1:n.99+27C>T
NM_199074.1:c.99+27C>T	NP_951056.1:n.99+27C>T
NM_199069.2:c.270+27C>T MANE Select	NP_951032.1:n.270+27C>T
NM_199070.2:c.99+27C>T	NP_951033.1:n.99+27C>T
NM_199073.2:c.99+27C>T	NP_951047.1:n.99+27C>T
NM_199074.2:c.99+27C>T	NP_951056.1:n.99+27C>T