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Canonical Allele Identifier:
CA414813690
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
693460
ClinVar RCV Id:
RCV000854832
RCV001796803
dbSNP Id:
rs1603223798
MyVariant Identifiers:
chrMT:g.12544A>G (hg38)
ERepo:
CA414813690/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12544A>G , J01415.2:m.12544A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.208A>G
ENSP00000354813.2:p.Thr70Ala
Search 100 bp 5'
Search 100 bp 3'