Canonical Allele Identifier: CA120639
Gene: MT-ND3 HGNC NCBI

Linked Data

ClinVar Variation Id: 9714
ClinVar RCV Id: RCV000010360 RCV000144009 RCV000224598 RCV001796716
dbSNP Id: rs199476117
MyVariant Identifiers: chrMT:g.10158T>C (hg38)
ERepo: CA120639/MONDO:0044970/014
PubMed: PMID:14684687 PMID:14705112 PMID:15372108 PMID:15576045 PMID:16023078 PMID:20301352
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Genomic Alleles

HGVS Genome Assembly
NC_012920.1:m.10158T>C , J01415.2:m.10158T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000361227.2:c.100T>C ENSP00000355206.2:p.Ser34Pro
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