Canonical Allele Identifier: CA325306

Gene: NDUFA9

Linked Data

• ClinVar Variation Id: 214714
• ClinVar RCV Id: RCV000200726 ; RCV001332549 ; RCV003165455 ; RCV002517234
• dbSNP Id: rs202214518
• ExAC: 12:4778911 T / C
• gnomAD v2: 12-4778911-T-C
• gnomAD v3: 12-4669745-T-C
• gnomAD v4: 12-4669745-T-C
• MyVariant Identifiers: chr12:g.4778911T>C (hg19) ; chr12:g.4669745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4669745T>C , CM000674.2:g.4669745T>C	GRCh38
NC_000012.11:g.4778911T>C , CM000674.1:g.4778911T>C	GRCh37
NC_000012.10:g.4649172T>C	NCBI36
NG_032124.1:g.25648T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266544.10:c.728T>C MANE Select	ENSP00000266544.5:p.Val243Ala
ENST00000648836.1:c.728T>C	ENSP00000497305.1:p.Val243Ala
ENST00000266544.9:c.728T>C	ENSP00000266544.5:p.Val243Ala
ENST00000543979.1:n.421T>C
ENST00000544675.1:n.682T>C
ENST00000544741.2:c.5T>C	ENSP00000456318.2:p.Val2Ala
NM_005002.4:c.728T>C	NP_004993.1:p.Val243Ala
NM_005002.5:c.728T>C MANE Select	NP_004993.1:p.Val243Ala