ClinGen Allele Registry
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Canonical Allele Identifier:
CA414820871
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693665
ClinVar RCV Id:
RCV000855045
dbSNP Id:
rs1603224520
MyVariant Identifiers:
chrMT:g.14091A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14091A>T , J01415.2:m.14091A>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.1755A>T
ENSP00000354813.2:p.Lys585Asn
Search 100 bp 5'
Search 100 bp 3'