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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA120632
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9702
ClinVar RCV Id:
RCV000010345
RCV000010346
RCV000144016
RCV000224472
RCV000494941
dbSNP Id:
rs267606897
MyVariant Identifiers:
chrMT:g.13513G>A (hg38)
PubMed:
PMID:9299505
PMID:10589546
PMID:12624137
PMID:14520659
PMID:14730434
PMID:15576045
PMID:16306525
PMID:17400793
PMID:18332249
PMID:20301352
ERepo:
CA120632/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13513G>A , J01415.2:m.13513G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361567.2:c.1177G>A
ENSP00000354813.2:p.Asp393Asn
Search 100 bp 5'
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