Canonical Allele Identifier: CA395819199

Gene: ORC6

Linked Data

• gnomAD v4: 16-46693101-C-A
• MyVariant Identifiers: chr16:g.46727013C>A (hg19) ; chr16:g.46693101C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46693101C>A , CM000678.2:g.46693101C>A	GRCh38
NC_000016.9:g.46727013C>A , CM000678.1:g.46727013C>A	GRCh37
NC_000016.8:g.45284514C>A	NCBI36
NG_028241.1:g.8456C>A
NG_029970.1:g.1132G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219097.7:c.368C>A MANE Select	ENSP00000219097.2:p.Ser123Tyr
ENST00000219097.6:c.368C>A	ENSP00000219097.2:p.Ser123Tyr
ENST00000563306.5:n.451C>A
ENST00000563599.5:c.*190C>A	ENSP00000454299.1:n.*190C>A
ENST00000566860.1:c.221C>A	ENSP00000456981.1:p.Ser74Tyr
ENST00000568364.6:c.368C>A	ENSP00000457282.2:p.Ser123Tyr
ENST00000569239.5:n.415C>A
ENST00000570260.2:n.367C>A
NM_014321.3:c.368C>A	NP_055136.1:p.Ser123Tyr
NR_037620.1:n.487C>A
XM_011522978.1:c.368C>A	XP_011521280.1:p.Ser123Tyr
XM_011522978.3:c.368C>A	XP_011521280.1:p.Ser123Tyr
NM_014321.4:c.368C>A MANE Select	NP_055136.1:p.Ser123Tyr
NR_037620.2:n.474C>A