Canonical Allele Identifier: CA324853

Gene: NDUFA11

Linked Data

• ClinVar Variation Id: 214691
• ClinVar RCV Id: RCV000200303
• dbSNP Id: rs780379280
• ExAC: 19:5896532 T / C
• gnomAD v2: 19-5896532-T-C
• gnomAD v3: 19-5896521-T-C
• gnomAD v4: 19-5896521-T-C
• COSMIC: COSM4132704 ; COSM4132705
• MyVariant Identifiers: chr19:g.5896532T>C (hg19) ; chr19:g.5896521T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5896521T>C , CM000681.2:g.5896521T>C	GRCh38
NC_000019.9:g.5896532T>C , CM000681.1:g.5896532T>C	GRCh37
NC_000019.8:g.5847532T>C	NCBI36
NG_027808.1:g.12493A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308961.5:c.245A>G MANE Select	ENSP00000311740.4:p.Glu82Gly
ENST00000650663.1:n.440A>G
ENST00000308961.4:c.245A>G	ENSP00000311740.3:p.Glu82Gly
ENST00000418389.6:c.245A>G	ENSP00000389160.1:p.Glu82Gly
ENST00000585661.1:c.240A>G
ENST00000586349.5:c.315A>G
ENST00000591341.1:n.161A>G
ENST00000592091.5:c.245A>G	ENSP00000465499.1:p.Glu82Gly
ENST00000592634.5:c.245A>G	ENSP00000467706.1:p.Glu82Gly
ENST00000593233.1:c.*257A>G	ENSP00000466103.1:n.*257A>G
NM_001193375.1:c.245A>G	NP_001180304.1:p.Glu82Gly
NM_175614.4:c.245A>G	NP_783313.1:p.Glu82Gly
NR_034166.2:n.670A>G
NM_001193375.2:c.245A>G	NP_001180304.1:p.Glu82Gly
NM_175614.5:c.245A>G MANE Select	NP_783313.1:p.Glu82Gly
NR_034166.3:n.447A>G
NM_001193375.3:c.245A>G	NP_001180304.1:p.Glu82Gly