Canonical Allele Identifier: CA350269982

Gene: NDUFB3

Linked Data

• dbSNP Id: rs1168413260
• gnomAD v2: 2-201950213-G-C
• gnomAD v4: 2-201085490-G-C
• MyVariant Identifiers: chr2:g.201950213G>C (hg19) ; chr2:g.201085490G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201085490G>C , CM000664.2:g.201085490G>C	GRCh38
NC_000002.11:g.201950213G>C , CM000664.1:g.201950213G>C	GRCh37
NC_000002.10:g.201658458G>C	NCBI36
NG_032156.1:g.18752G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450023.6:c.172G>C	ENSP00000401834.2:p.Ala58Pro
ENST00000682325.1:c.172G>C	ENSP00000507925.1:p.Ala58Pro
ENST00000684175.1:c.172G>C	ENSP00000508132.1:p.Ala58Pro
ENST00000684420.1:c.172G>C	ENSP00000508208.1:p.Ala58Pro
ENST00000237889.9:c.172G>C MANE Select	ENSP00000237889.4:p.Ala58Pro
ENST00000237889.8:c.172G>C	ENSP00000237889.4:p.Ala58Pro
ENST00000433898.5:c.172G>C	ENSP00000410600.1:p.Ala58Pro
ENST00000450023.5:c.172G>C	ENSP00000401834.1:p.Ala58Pro
ENST00000454214.1:c.172G>C	ENSP00000407336.1:p.Ala58Pro
NM_001257102.1:c.172G>C	NP_001244031.1:p.Ala58Pro
NM_002491.2:c.172G>C	NP_002482.1:p.Ala58Pro
XM_011511230.1:c.172G>C	XP_011509532.1:p.Ala58Pro
XM_011511230.3:c.172G>C	XP_011509532.1:p.Ala58Pro
XM_017004186.2:c.172G>C	XP_016859675.1:p.Ala58Pro
NM_002491.3:c.172G>C MANE Select	NP_002482.1:p.Ala58Pro
NM_001257102.2:c.172G>C	NP_001244031.1:p.Ala58Pro