Canonical Allele Identifier: CA292437

Gene: NDUFA9

Linked Data

• ClinVar Variation Id: 138447
• ClinVar RCV Id: RCV000127111 ; RCV000676411
• dbSNP Id: rs4147682
• ExAC: 12:4768193 A / T
• gnomAD v2: 12-4768193-A-T
• gnomAD v3: 12-4659027-A-T
• gnomAD v4: 12-4659027-A-T
• MyVariant Identifiers: chr12:g.4768193A>T (hg19) ; chr12:g.4659027A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4659027A>T , CM000674.2:g.4659027A>T	GRCh38
NC_000012.11:g.4768193A>T , CM000674.1:g.4768193A>T	GRCh37
NC_000012.10:g.4638454A>T	NCBI36
NG_032124.1:g.14930A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266544.10:c.411-9A>T MANE Select	ENSP00000266544.5:n.411-9A>T
ENST00000648836.1:c.411-9A>T	ENSP00000497305.1:n.411-9A>T
ENST00000266544.9:c.411-9A>T	ENSP00000266544.5:n.411-9A>T
ENST00000396655.6:n.421-9A>T
ENST00000535726.5:n.667-9A>T
ENST00000536588.1:c.566-9A>T
ENST00000539573.5:n.174-9A>T
ENST00000543979.1:n.207-9A>T
ENST00000544675.1:n.468-9A>T
NM_005002.4:c.411-9A>T	NP_004993.1:n.411-9A>T
NM_005002.5:c.411-9A>T MANE Select	NP_004993.1:n.411-9A>T