Canonical Allele Identifier: CA352728535

Gene: NDUFAF3

Linked Data

• gnomAD v4: 3-49022506-G-T
• MyVariant Identifiers: chr3:g.49059939G>T (hg19) ; chr3:g.49022506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022506G>T , CM000665.2:g.49022506G>T	GRCh38
NC_000003.11:g.49059939G>T , CM000665.1:g.49059939G>T	GRCh37
NC_000003.10:g.49034943G>T	NCBI36
NG_012091.1:g.11937C>A
NG_016282.1:g.7032G>T
NG_033126.1:g.3566C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.238G>T MANE Select	ENSP00000323076.5:p.Ala80Ser
ENST00000326912.8:c.67G>T	ENSP00000323003.4:p.Ala23Ser
ENST00000326925.10:c.238G>T	ENSP00000323076.5:p.Ala80Ser
ENST00000395458.6:c.67G>T	ENSP00000378843.2:p.Ala23Ser
ENST00000451378.2:c.67G>T	ENSP00000402465.2:p.Ala23Ser
ENST00000480392.1:n.262G>T
ENST00000496152.1:n.394G>T
NM_199069.1:c.238G>T	NP_951032.1:p.Ala80Ser
NM_199070.1:c.67G>T	NP_951033.1:p.Ala23Ser
NM_199073.1:c.67G>T	NP_951047.1:p.Ala23Ser
NM_199074.1:c.67G>T	NP_951056.1:p.Ala23Ser
NM_199069.2:c.238G>T MANE Select	NP_951032.1:p.Ala80Ser
NM_199070.2:c.67G>T	NP_951033.1:p.Ala23Ser
NM_199073.2:c.67G>T	NP_951047.1:p.Ala23Ser
NM_199074.2:c.67G>T	NP_951056.1:p.Ala23Ser