ClinGen Allele Registry
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Canonical Allele Identifier:
CA414796253
Gene: MT-ATP8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692870
ClinVar RCV Id:
RCV000854200
dbSNP Id:
rs1603221515
MyVariant Identifiers:
chrMT:g.8474C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.8474C>T , J01415.2:m.8474C>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361851.1:c.109C>T
ENSP00000355265.1:p.Pro37Ser
Search 100 bp 5'
Search 100 bp 3'