ClinGen Allele Registry
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Canonical Allele Identifier:
CA414815023
Gene: MT-ND5
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.12820G>C (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12820G>C , J01415.2:m.12820G>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.484G>C
ENSP00000354813.2:p.Ala162Pro
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