Canonical Allele Identifier: CA2390217

Gene: NDUFAF3

Linked Data

• dbSNP Id: rs121918134
• ExAC: 3:49059930 G / A
• gnomAD v2: 3-49059930-G-A
• MyVariant Identifiers: chr3:g.49059930G>A (hg19) ; chr3:g.49022497G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022497G>A , CM000665.2:g.49022497G>A	GRCh38
NC_000003.11:g.49059930G>A , CM000665.1:g.49059930G>A	GRCh37
NC_000003.10:g.49034934G>A	NCBI36
NG_012091.1:g.11946C>T
NG_016282.1:g.7023G>A
NG_033126.1:g.3575C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326925.11:c.229G>A MANE Select	ENSP00000323076.5:p.Gly77Ser
ENST00000326912.8:c.58G>A	ENSP00000323003.4:p.Gly20Ser
ENST00000326925.10:c.229G>A	ENSP00000323076.5:p.Gly77Ser
ENST00000395458.6:c.58G>A	ENSP00000378843.2:p.Gly20Ser
ENST00000451378.2:c.58G>A	ENSP00000402465.2:p.Gly20Ser
ENST00000480392.1:n.253G>A
ENST00000496152.1:n.385G>A
NM_199069.1:c.229G>A	NP_951032.1:p.Gly77Ser
NM_199070.1:c.58G>A	NP_951033.1:p.Gly20Ser
NM_199073.1:c.58G>A	NP_951047.1:p.Gly20Ser
NM_199074.1:c.58G>A	NP_951056.1:p.Gly20Ser
NM_199069.2:c.229G>A MANE Select	NP_951032.1:p.Gly77Ser
NM_199070.2:c.58G>A	NP_951033.1:p.Gly20Ser
NM_199073.2:c.58G>A	NP_951047.1:p.Gly20Ser
NM_199074.2:c.58G>A	NP_951056.1:p.Gly20Ser