Canonical Allele Identifier: CA352728657

Gene: NDUFAF3

Linked Data

• gnomAD v4: 3-49022521-T-C
• MyVariant Identifiers: chr3:g.49059954T>C (hg19) ; chr3:g.49022521T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022521T>C , CM000665.2:g.49022521T>C	GRCh38
NC_000003.11:g.49059954T>C , CM000665.1:g.49059954T>C	GRCh37
NC_000003.10:g.49034958T>C	NCBI36
NG_012091.1:g.11922A>G
NG_016282.1:g.7047T>C
NG_033126.1:g.3551A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.253T>C MANE Select	ENSP00000323076.5:p.Ser85Pro
ENST00000326912.8:c.82T>C	ENSP00000323003.4:p.Ser28Pro
ENST00000326925.10:c.253T>C	ENSP00000323076.5:p.Ser85Pro
ENST00000395458.6:c.82T>C	ENSP00000378843.2:p.Ser28Pro
ENST00000451378.2:c.82T>C	ENSP00000402465.2:p.Ser28Pro
ENST00000480392.1:n.277T>C
ENST00000496152.1:n.409T>C
NM_199069.1:c.253T>C	NP_951032.1:p.Ser85Pro
NM_199070.1:c.82T>C	NP_951033.1:p.Ser28Pro
NM_199073.1:c.82T>C	NP_951047.1:p.Ser28Pro
NM_199074.1:c.82T>C	NP_951056.1:p.Ser28Pro
NM_199069.2:c.253T>C MANE Select	NP_951032.1:p.Ser85Pro
NM_199070.2:c.82T>C	NP_951033.1:p.Ser28Pro
NM_199073.2:c.82T>C	NP_951047.1:p.Ser28Pro
NM_199074.2:c.82T>C	NP_951056.1:p.Ser28Pro