Canonical Allele Identifier: CA280194294
Gene: ORC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 886719
ClinVar RCV Id: RCV001119067
dbSNP Id: rs768042955
gnomAD v4: 16-46698037-C-T
MyVariant Identifiers: chr16:g.46731949C>T (hg19) chr16:g.46698037C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.46698037C>T , CM000678.2:g.46698037C>T GRCh38
NC_000016.9:g.46731949C>T , CM000678.1:g.46731949C>T GRCh37
NC_000016.8:g.45289450C>T NCBI36
NG_028241.1:g.13392C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219097.7:c.*452C>T MANE Select ENSP00000219097.2:n.*452C>T
ENST00000219097.6:c.*452C>T ENSP00000219097.2:n.*452C>T
ENST00000566860.1:c.*452C>T ENSP00000456981.1:n.*452C>T
ENST00000567000.2:n.1215C>T
NM_014321.3:c.*452C>T NP_055136.1:n.*452C>T
NR_037620.1:n.1330C>T
NM_014321.4:c.*452C>T MANE Select NP_055136.1:n.*452C>T
NR_037620.2:n.1317C>T
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