Canonical Allele Identifier: CA2052306

Gene: NDUFB3

Linked Data

• dbSNP Id: rs781586756
• ExAC: 2:201950158 A / G
• gnomAD v2: 2-201950158-A-G
• gnomAD v4: 2-201085435-A-G
• MyVariant Identifiers: chr2:g.201950158A>G (hg19) ; chr2:g.201085435A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201085435A>G , CM000664.2:g.201085435A>G	GRCh38
NC_000002.11:g.201950158A>G , CM000664.1:g.201950158A>G	GRCh37
NC_000002.10:g.201658403A>G	NCBI36
NG_032156.1:g.18697A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450023.6:c.141-24A>G	ENSP00000401834.2:n.141-24A>G
ENST00000682325.1:c.141-24A>G	ENSP00000507925.1:n.141-24A>G
ENST00000684175.1:c.141-24A>G	ENSP00000508132.1:n.141-24A>G
ENST00000684420.1:c.141-24A>G	ENSP00000508208.1:n.141-24A>G
ENST00000237889.9:c.141-24A>G MANE Select	ENSP00000237889.4:n.141-24A>G
ENST00000237889.8:c.141-24A>G	ENSP00000237889.4:n.141-24A>G
ENST00000433898.5:c.141-24A>G	ENSP00000410600.1:n.141-24A>G
ENST00000450023.5:c.141-24A>G	ENSP00000401834.1:n.141-24A>G
ENST00000454214.1:c.141-24A>G	ENSP00000407336.1:n.141-24A>G
NM_001257102.1:c.141-24A>G	NP_001244031.1:n.141-24A>G
NM_002491.2:c.141-24A>G	NP_002482.1:n.141-24A>G
XM_011511230.1:c.141-24A>G	XP_011509532.1:n.141-24A>G
XM_011511230.3:c.141-24A>G	XP_011509532.1:n.141-24A>G
XM_017004186.2:c.141-24A>G	XP_016859675.1:n.141-24A>G
NM_002491.3:c.141-24A>G MANE Select	NP_002482.1:n.141-24A>G
NM_001257102.2:c.141-24A>G	NP_001244031.1:n.141-24A>G