Canonical Allele Identifier: CA129045
Gene: ORC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30232
dbSNP Id: rs143141689
gnomAD v2: 1-52863445-C-T
gnomAD v3: 1-52397773-C-T
gnomAD v4: 1-52397773-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.52397773C>T , CM000663.2:g.52397773C>T GRCh38
NC_000001.10:g.52863445C>T , CM000663.1:g.52863445C>T GRCh37
NC_000001.9:g.52636033C>T NCBI36
NG_028251.1:g.11699G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371568.8:c.314G>A MANE Select ENSP00000360623.3:p.Arg105Gln
ENST00000371566.1:c.314G>A ENSP00000360621.1:p.Arg105Gln
ENST00000371568.7:c.314G>A ENSP00000360623.3:p.Arg105Gln
NM_001190818.1:c.314G>A NP_001177747.1:p.Arg105Gln
NM_001190819.1:c.314G>A NP_001177748.1:p.Arg105Gln
NM_004153.3:c.314G>A NP_004144.2:p.Arg105Gln
XM_011541527.3:c.-824G>A XP_011539829.1:n.-824G>A
XM_017001388.2:c.314G>A XP_016856877.1:p.Arg105Gln
XM_017001389.2:c.-487G>A XP_016856878.1:n.-487G>A
NM_004153.4:c.314G>A MANE Select NP_004144.2:p.Arg105Gln
NM_001190818.2:c.314G>A NP_001177747.1:p.Arg105Gln
NM_001190819.2:c.314G>A NP_001177748.1:p.Arg105Gln