Canonical Allele Identifier: CA352727550

Gene: NDUFAF3

Linked Data

• dbSNP Id: rs776491114
• gnomAD v2: 3-49059844-C-A
• gnomAD v4: 3-49022411-C-A
• MyVariant Identifiers: chr3:g.49059844C>A (hg19) ; chr3:g.49022411C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022411C>A , CM000665.2:g.49022411C>A	GRCh38
NC_000003.11:g.49059844C>A , CM000665.1:g.49059844C>A	GRCh37
NC_000003.10:g.49034848C>A	NCBI36
NG_012091.1:g.12032G>T
NG_016282.1:g.6937C>A
NG_033126.1:g.3661G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.143C>A MANE Select	ENSP00000323076.5:p.Ser48Tyr
ENST00000326912.8:c.-29C>A	ENSP00000323003.4:n.-29C>A
ENST00000326925.10:c.143C>A	ENSP00000323076.5:p.Ser48Tyr
ENST00000395458.6:c.-29C>A	ENSP00000378843.2:n.-29C>A
ENST00000451378.2:c.-29C>A	ENSP00000402465.2:n.-29C>A
ENST00000480392.1:n.167C>A
ENST00000496152.1:n.299C>A
NM_199069.1:c.143C>A	NP_951032.1:p.Ser48Tyr
NM_199070.1:c.-29C>A	NP_951033.1:n.-29C>A
NM_199073.1:c.-29C>A	NP_951047.1:n.-29C>A
NM_199074.1:c.-29C>A	NP_951056.1:n.-29C>A
NM_199069.2:c.143C>A MANE Select	NP_951032.1:p.Ser48Tyr
NM_199070.2:c.-29C>A	NP_951033.1:n.-29C>A
NM_199073.2:c.-29C>A	NP_951047.1:n.-29C>A
NM_199074.2:c.-29C>A	NP_951056.1:n.-29C>A