ClinGen Allele Registry
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Canonical Allele Identifier:
CA414819354
Gene: MT-ND5
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrMT:g.13749C>A (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13749C>A , J01415.2:m.13749C>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.1413C>A
ENSP00000354813.2:p.Asn471Lys
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