Canonical Allele Identifier: CA538928172

Gene: NDUFB3

Linked Data

• dbSNP Id: rs1183198490
• gnomAD v2: 2-201943776-G-A
• gnomAD v4: 2-201079053-G-A
• MyVariant Identifiers: chr2:g.201943776G>A (hg19) ; chr2:g.201079053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201079053G>A , CM000664.2:g.201079053G>A	GRCh38
NC_000002.11:g.201943776G>A , CM000664.1:g.201943776G>A	GRCh37
NC_000002.10:g.201652021G>A	NCBI36
NG_032156.1:g.12315G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450023.6:c.140+31G>A	ENSP00000401834.2:n.140+31G>A
ENST00000682325.1:c.140+31G>A	ENSP00000507925.1:n.140+31G>A
ENST00000684175.1:c.140+31G>A	ENSP00000508132.1:n.140+31G>A
ENST00000684420.1:c.140+31G>A	ENSP00000508208.1:n.140+31G>A
ENST00000237889.9:c.140+31G>A MANE Select	ENSP00000237889.4:n.140+31G>A
ENST00000237889.8:c.140+31G>A	ENSP00000237889.4:n.140+31G>A
ENST00000433898.5:c.140+31G>A	ENSP00000410600.1:n.140+31G>A
ENST00000450023.5:c.140+31G>A	ENSP00000401834.1:n.140+31G>A
ENST00000454214.1:c.140+31G>A	ENSP00000407336.1:n.140+31G>A
NM_001257102.1:c.140+31G>A	NP_001244031.1:n.140+31G>A
NM_002491.2:c.140+31G>A	NP_002482.1:n.140+31G>A
XM_011511230.1:c.140+31G>A	XP_011509532.1:n.140+31G>A
XM_011511230.3:c.140+31G>A	XP_011509532.1:n.140+31G>A
XM_017004186.2:c.140+31G>A	XP_016859675.1:n.140+31G>A
NM_002491.3:c.140+31G>A MANE Select	NP_002482.1:n.140+31G>A
NM_001257102.2:c.140+31G>A	NP_001244031.1:n.140+31G>A