ClinGen Allele Registry
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Canonical Allele Identifier:
CA337099659
Gene: MT-ND5
HGNC
NCBI
Linked Data
dbSNP Id:
rs28359175
MyVariant Identifiers:
chrMT:g.13263A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13263A>G , J01415.2:m.13263A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361567.2:c.927A>G
ENSP00000354813.2:p.Gln309=
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