Canonical Allele Identifier: CA2052334

Gene: NDUFB3

Linked Data

• dbSNP Id: rs771752490
• ExAC: 2:201950281 A / T
• gnomAD v2: 2-201950281-A-T
• gnomAD v4: 2-201085558-A-T
• MyVariant Identifiers: chr2:g.201950281A>T (hg19) ; chr2:g.201085558A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201085558A>T , CM000664.2:g.201085558A>T	GRCh38
NC_000002.11:g.201950281A>T , CM000664.1:g.201950281A>T	GRCh37
NC_000002.10:g.201658526A>T	NCBI36
NG_032156.1:g.18820A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450023.6:c.240A>T	ENSP00000401834.2:p.Val80=
ENST00000682325.1:c.240A>T	ENSP00000507925.1:p.Val80=
ENST00000684175.1:c.240A>T	ENSP00000508132.1:p.Val80=
ENST00000684420.1:c.240A>T	ENSP00000508208.1:p.Val80=
ENST00000237889.9:c.240A>T MANE Select	ENSP00000237889.4:p.Val80=
ENST00000237889.8:c.240A>T	ENSP00000237889.4:p.Val80=
ENST00000433898.5:c.240A>T	ENSP00000410600.1:p.Val80=
ENST00000454214.1:c.240A>T	ENSP00000407336.1:p.Val80=
NM_001257102.1:c.240A>T	NP_001244031.1:p.Val80=
NM_002491.2:c.240A>T	NP_002482.1:p.Val80=
XM_011511230.1:c.240A>T	XP_011509532.1:p.Val80=
XM_011511230.3:c.240A>T	XP_011509532.1:p.Val80=
XM_017004186.2:c.240A>T	XP_016859675.1:p.Val80=
NM_002491.3:c.240A>T MANE Select	NP_002482.1:p.Val80=
NM_001257102.2:c.240A>T	NP_001244031.1:p.Val80=