ClinGen Allele Registry
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Canonical Allele Identifier:
CA414819194
Gene: MT-ND5
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.13714G>C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13714G>C , J01415.2:m.13714G>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.1378G>C
ENSP00000354813.2:p.Gly460Arg
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