Canonical Allele Identifier: CA9119084

Gene: NDUFA11

Linked Data

• ClinVar Variation Id: 330242
• ClinVar RCV Id: RCV000400628
• dbSNP Id: rs759857076
• ExAC: 19:5903918 AAG / A
• gnomAD v2: 19-5903918-AAG-A
• gnomAD v3: 19-5903907-AAG-A
• gnomAD v4: 19-5903907-AAG-A
• MyVariant Identifiers: chr19:g.5903919_5903920del (hg19) ; chr19:g.5903908_5903909del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5903912_5903913del , CM000681.2:g.5903912_5903913del	GRCh38
NC_000019.9:g.5903923_5903924del , CM000681.1:g.5903923_5903924del	GRCh37
NC_000019.8:g.5854923_5854924del	NCBI36
NG_027808.1:g.5105_5106del

Transcript Alleles

HGVS	Amino-acid change
ENST00000591160.1:n.98_99del
NM_001193375.1:c.-201_-200del	NP_001180304.1:n.-201_-200del
NM_175614.4:c.-201_-200del	NP_783313.1:n.-201_-200del
NR_034166.2:n.105_106del