Canonical Allele Identifier: CA6835199

Gene: ANAPC5

Linked Data

• dbSNP Id: rs558581024
• ExAC: 12:121756367 T / C
• gnomAD v2: 12-121756367-T-C
• gnomAD v3: 12-121318564-T-C
• gnomAD v4: 12-121318564-T-C
• MyVariant Identifiers: chr12:g.121756367T>C (hg19) ; chr12:g.121318564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318564T>C , CM000674.2:g.121318564T>C	GRCh38
NC_000012.11:g.121756367T>C , CM000674.1:g.121756367T>C	GRCh37
NC_000012.10:g.120240750T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1682A>G MANE Select	ENSP00000261819.3:p.His561Arg
ENST00000261819.7:c.1682A>G	ENSP00000261819.3:p.His561Arg
ENST00000366333.3:n.894A>G
ENST00000441917.6:c.1346A>G	ENSP00000415061.2:p.His449Arg
ENST00000534976.5:n.2338A>G
ENST00000535482.1:c.680A>G	ENSP00000438754.1:p.His227Arg
ENST00000535641.5:n.1893A>G
ENST00000539079.5:c.1026A>G
ENST00000541887.5:c.1643A>G	ENSP00000439875.1:p.His548Arg
ENST00000544314.5:n.800A>G
ENST00000545218.5:n.925A>G
NM_001137559.1:c.1346A>G	NP_001131031.1:p.His449Arg
NM_016237.4:c.1682A>G	NP_057321.2:p.His561Arg
XM_005253900.2:c.1643A>G	XP_005253957.1:p.His548Arg
XM_006719449.1:c.488A>G	XP_006719512.1:p.His163Arg
NM_001330489.1:c.1643A>G	NP_001317418.1:p.His548Arg
XM_017019423.2:c.488A>G	XP_016874912.1:p.His163Arg
XM_017019424.2:c.488A>G	XP_016874913.1:p.His163Arg
NM_016237.5:c.1682A>G MANE Select	NP_057321.2:p.His561Arg
NM_001330489.2:c.1643A>G	NP_001317418.1:p.His548Arg