ClinGen Allele Registry
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Canonical Allele Identifier:
CA340935
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9696
ClinVar RCV Id:
RCV000010336
RCV000854970
dbSNP Id:
rs28359178
MyVariant Identifiers:
chrMT:g.13708G>A (hg38)
PubMed:
PMID:1417830
PMID:1732158
PMID:1764087
PMID:1900003
PMID:7635294
PMID:20301353
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13708G>A , J01415.2:m.13708G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361567.2:c.1372G>A
ENSP00000354813.2:p.Ala458Thr
Search 100 bp 5'
Search 100 bp 3'