Canonical Allele Identifier: CA8037240

Gene: ORC6

Linked Data

• ClinVar Variation Id: 436124
• ClinVar RCV Id: RCV000499481
• dbSNP Id: rs777153067
• ExAC: 16:46723618 A / G
• gnomAD v2: 16-46723618-A-G
• gnomAD v4: 16-46689706-A-G
• MyVariant Identifiers: chr16:g.46723618A>G (hg19) ; chr16:g.46689706A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46689706A>G , CM000678.2:g.46689706A>G	GRCh38
NC_000016.9:g.46723618A>G , CM000678.1:g.46723618A>G	GRCh37
NC_000016.8:g.45281119A>G	NCBI36
NG_028241.1:g.5061A>G
NG_029970.1:g.4527T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219097.7:c.1A>G MANE Select	ENSP00000219097.2:p.Met1Val
ENST00000219097.6:c.1A>G	ENSP00000219097.2:p.Met1Val
ENST00000563306.5:n.25A>G
ENST00000563599.5:c.1A>G	ENSP00000454299.1:p.Met1Val
ENST00000568364.6:c.1A>G	ENSP00000457282.2:p.Met1Val
ENST00000569239.5:n.48A>G
NM_014321.3:c.1A>G	NP_055136.1:p.Met1Val
NR_037620.1:n.61A>G
XM_011522978.1:c.1A>G	XP_011521280.1:p.Met1Val
XM_011522978.3:c.1A>G	XP_011521280.1:p.Met1Val
NM_014321.4:c.1A>G MANE Select	NP_055136.1:p.Met1Val
NR_037620.2:n.48A>G