ClinGen Allele Registry
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Canonical Allele Identifier:
CA337100202
Gene: MT-CYB
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.14905G>T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14905G>T , J01415.2:m.14905G>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361789.2:c.159G>T
ENSP00000354554.2:p.Met53Ile
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