ClinGen Allele Registry
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Canonical Allele Identifier:
CA337099838
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693625
ClinVar RCV Id:
RCV000855003
dbSNP Id:
rs28359181
MyVariant Identifiers:
chrMT:g.13880C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13880C>A , J01415.2:m.13880C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.1544C>A
ENSP00000354813.2:p.Ser515Tyr
Search 100 bp 5'
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