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Canonical Allele Identifier:
CA337099467
Gene: MT-ND5
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.12372G>A
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000625870
RCV002248828
ClinVar Variation:
522717
dbSNP:
2853499
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.12372G>A , J01415.2:m.12372G>A
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361567.2:c.36G>A
ENSP00000354813.2:p.Leu12=
Search 100 bp 5'
Search 100 bp 3'