ClinGen Allele Registry
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Canonical Allele Identifier:
CA250583
Gene: MT-CO2
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.8009G>A
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010295
RCV002247302
ClinVar Variation:
9659
dbSNP:
199474826
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8009G>A , J01415.2:m.8009G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361739.1:c.424G>A
ENSP00000354876.1:p.Val142Ile
Search 100 bp 5'
Search 100 bp 3'