ClinGen Allele Registry
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Canonical Allele Identifier:
CA337099716
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
618218
ClinVar RCV Id:
RCV000756359
RCV000854944
RCV003334007
RCV003985426
dbSNP Id:
rs55882959
MyVariant Identifiers:
chrMT:g.13528A>G (hg38)
ERepo:
CA337099716/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13528A>G , J01415.2:m.13528A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.1192A>G
ENSP00000354813.2:p.Thr398Ala
Search 100 bp 5'
Search 100 bp 3'