Canonical Allele Identifier: CA8037381

Gene: ORC6

Linked Data

• ClinVar Variation Id: 253273
• ClinVar RCV Id: RCV000239658 ; RCV001378526
• dbSNP Id: rs572314014
• ExAC: 16:46727099 G / A
• gnomAD v2: 16-46727099-G-A
• gnomAD v3: 16-46693187-G-A
• gnomAD v4: 16-46693187-G-A
• MyVariant Identifiers: chr16:g.46727099G>A (hg19) ; chr16:g.46693187G>A (hg38)
• PubMed: PMID:22333897

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46693187G>A , CM000678.2:g.46693187G>A	GRCh38
NC_000016.9:g.46727099G>A , CM000678.1:g.46727099G>A	GRCh37
NC_000016.8:g.45284600G>A	NCBI36
NG_028241.1:g.8542G>A
NG_029970.1:g.1046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219097.7:c.449+5G>A MANE Select	ENSP00000219097.2:n.449+5G>A
ENST00000219097.6:c.449+5G>A	ENSP00000219097.2:n.449+5G>A
ENST00000563306.5:n.532+5G>A
ENST00000563599.5:c.*271+5G>A	ENSP00000454299.1:n.*271+5G>A
ENST00000566860.1:c.302+5G>A	ENSP00000456981.1:n.302+5G>A
ENST00000568364.6:c.449+5G>A	ENSP00000457282.2:n.449+5G>A
ENST00000569239.5:n.501G>A
ENST00000570260.2:n.448+5G>A
NM_014321.3:c.449+5G>A	NP_055136.1:n.449+5G>A
NR_037620.1:n.568+5G>A
XM_011522978.1:c.449+5G>A	XP_011521280.1:n.449+5G>A
XM_011522978.3:c.449+5G>A	XP_011521280.1:n.449+5G>A
NM_014321.4:c.449+5G>A MANE Select	NP_055136.1:n.449+5G>A
NR_037620.2:n.555+5G>A