Canonical Allele Identifier: CA8037229

Gene: ORC6

Linked Data

• ClinVar Variation Id: 260386
• ClinVar RCV Id: RCV000242816 ; RCV000364037 ; RCV000367122 ; RCV001118968
• dbSNP Id: rs33994299
• ExAC: 16:46723598 T / C
• gnomAD v2: 16-46723598-T-C
• gnomAD v3: 16-46689686-T-C
• gnomAD v4: 16-46689686-T-C
• MyVariant Identifiers: chr16:g.46723598T>C (hg19) ; chr16:g.46689686T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46689686T>C , CM000678.2:g.46689686T>C	GRCh38
NC_000016.9:g.46723598T>C , CM000678.1:g.46723598T>C	GRCh37
NC_000016.8:g.45281099T>C	NCBI36
NG_028241.1:g.5041T>C
NG_029970.1:g.4547A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219097.7:c.-20T>C MANE Select	ENSP00000219097.2:n.-20T>C
ENST00000219097.6:c.-20T>C	ENSP00000219097.2:n.-20T>C
ENST00000563306.5:n.5T>C
ENST00000563599.5:c.-20T>C	ENSP00000454299.1:n.-20T>C
ENST00000569239.5:n.28T>C
NM_014321.3:c.-20T>C	NP_055136.1:n.-20T>C
NR_037620.1:n.41T>C
XM_011522978.1:c.-20T>C	XP_011521280.1:n.-20T>C
XM_011522978.3:c.-20T>C	XP_011521280.1:n.-20T>C
NM_014321.4:c.-20T>C MANE Select	NP_055136.1:n.-20T>C
NR_037620.2:n.28T>C