Canonical Allele Identifier: CA6722608

Gene: NDUFA12

Linked Data

• ClinVar Variation Id: 514391
• ClinVar RCV Id: RCV002532803
• dbSNP Id: rs772993752
• ExAC: 12:95396504 A / G
• gnomAD v2: 12-95396504-A-G
• gnomAD v3: 12-95002728-A-G
• gnomAD v4: 12-95002728-A-G
• MyVariant Identifiers: chr12:g.95396504A>G (hg19) ; chr12:g.95002728A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95002728A>G , CM000674.2:g.95002728A>G	GRCh38
NC_000012.11:g.95396504A>G , CM000674.1:g.95396504A>G	GRCh37
NC_000012.10:g.93920635A>G	NCBI36
NG_032672.1:g.5986T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000552205.6:c.169+11T>C	ENSP00000449144.2:n.169+11T>C
ENST00000682903.1:c.169+11T>C	ENSP00000507486.1:n.169+11T>C
ENST00000684171.1:c.169+11T>C	ENSP00000506808.1:n.169+11T>C
ENST00000684558.1:c.169+11T>C	ENSP00000507784.1:n.169+11T>C
ENST00000327772.7:c.169+11T>C MANE Select	ENSP00000330737.2:n.169+11T>C
ENST00000327772.6:c.169+11T>C	ENSP00000330737.2:n.169+11T>C
ENST00000546788.1:c.169+11T>C	ENSP00000448545.1:n.169+11T>C
ENST00000547157.1:c.102+78T>C	ENSP00000448846.1:n.102+78T>C
ENST00000547986.5:c.169+11T>C	ENSP00000450130.1:n.169+11T>C
ENST00000551991.5:c.97+11T>C	ENSP00000450096.1:n.97+11T>C
ENST00000552205.5:c.149+11T>C
NM_001258338.1:c.169+11T>C	NP_001245267.1:n.169+11T>C
NM_018838.4:c.169+11T>C	NP_061326.1:n.169+11T>C
NM_018838.5:c.169+11T>C MANE Select	NP_061326.1:n.169+11T>C
NM_001258338.2:c.169+11T>C	NP_001245267.1:n.169+11T>C