Canonical Allele Identifier: CA433629008
Gene: NDUFAF3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.49059857C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49022424C>A , CM000665.2:g.49022424C>A GRCh38
NC_000003.11:g.49059857C>A , CM000665.1:g.49059857C>A GRCh37
NC_000003.10:g.49034861C>A NCBI36
NG_012091.1:g.12019G>T
NG_016282.1:g.6950C>A
NG_033126.1:g.3648G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326925.11:c.156C>A MANE Select ENSP00000323076.5:p.Arg52=
ENST00000326912.8:c.-16C>A ENSP00000323003.4:n.-16C>A
ENST00000326925.10:c.156C>A ENSP00000323076.5:p.Arg52=
ENST00000395458.6:c.-16C>A ENSP00000378843.2:n.-16C>A
ENST00000451378.2:c.-16C>A ENSP00000402465.2:n.-16C>A
ENST00000480392.1:n.180C>A
ENST00000496152.1:n.312C>A
NM_199069.1:c.156C>A NP_951032.1:p.Arg52=
NM_199070.1:c.-16C>A NP_951033.1:n.-16C>A
NM_199073.1:c.-16C>A NP_951047.1:n.-16C>A
NM_199074.1:c.-16C>A NP_951056.1:n.-16C>A
NM_199069.2:c.156C>A MANE Select NP_951032.1:p.Arg52=
NM_199070.2:c.-16C>A NP_951033.1:n.-16C>A
NM_199073.2:c.-16C>A NP_951047.1:n.-16C>A
NM_199074.2:c.-16C>A NP_951056.1:n.-16C>A