Canonical Allele Identifier: CA8037526
Gene: ORC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 886720
ClinVar RCV Id: RCV001119068
dbSNP Id: rs771044771
ExAC: 16:46732014 G / A
gnomAD v2: 16-46732014-G-A
gnomAD v3: 16-46698102-G-A
gnomAD v4: 16-46698102-G-A
MyVariant Identifiers: chr16:g.46732014G>A (hg19) chr16:g.46698102G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.46698102G>A , CM000678.2:g.46698102G>A GRCh38
NC_000016.9:g.46732014G>A , CM000678.1:g.46732014G>A GRCh37
NC_000016.8:g.45289515G>A NCBI36
NG_028241.1:g.13457G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219097.7:c.*517G>A MANE Select ENSP00000219097.2:n.*517G>A
ENST00000219097.6:c.*517G>A ENSP00000219097.2:n.*517G>A
ENST00000566860.1:c.*517G>A ENSP00000456981.1:n.*517G>A
ENST00000567000.2:n.1280G>A
NM_014321.3:c.*517G>A NP_055136.1:n.*517G>A
NR_037620.1:n.1395G>A
NM_014321.4:c.*517G>A MANE Select NP_055136.1:n.*517G>A
NR_037620.2:n.1382G>A
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