Canonical Allele Identifier: CA244574620

Gene: ANAPC5

Linked Data

• dbSNP Id: rs956990916
• gnomAD v3: 12-121318214-G-A
• gnomAD v4: 12-121318214-G-A
• MyVariant Identifiers: chr12:g.121756017G>A (hg19) ; chr12:g.121318214G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318214G>A , CM000674.2:g.121318214G>A	GRCh38
NC_000012.11:g.121756017G>A , CM000674.1:g.121756017G>A	GRCh37
NC_000012.10:g.120240400G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000261819.8:c.1893+63C>T MANE Select	ENSP00000261819.3:n.1893+63C>T
ENST00000261819.7:c.1893+63C>T	ENSP00000261819.3:n.1893+63C>T
ENST00000441917.6:c.1557+63C>T	ENSP00000415061.2:n.1557+63C>T
ENST00000534976.5:n.2625+63C>T
ENST00000535482.1:c.891+63C>T	ENSP00000438754.1:n.891+63C>T
ENST00000535641.5:n.2104+63C>T
ENST00000539079.5:c.1217+63C>T
ENST00000541887.5:c.1854+63C>T	ENSP00000439875.1:n.1854+63C>T
ENST00000544314.5:n.1011+63C>T
ENST00000545218.5:n.1064-60C>T
NM_001137559.1:c.1557+63C>T	NP_001131031.1:n.1557+63C>T
NM_016237.4:c.1893+63C>T	NP_057321.2:n.1893+63C>T
XM_005253900.2:c.1854+63C>T	XP_005253957.1:n.1854+63C>T
XM_006719449.1:c.699+63C>T	XP_006719512.1:n.699+63C>T
NM_001330489.1:c.1854+63C>T	NP_001317418.1:n.1854+63C>T
XM_017019423.2:c.699+63C>T	XP_016874912.1:n.699+63C>T
XM_017019424.2:c.699+63C>T	XP_016874913.1:n.699+63C>T
NM_016237.5:c.1893+63C>T MANE Select	NP_057321.2:n.1893+63C>T
NM_001330489.2:c.1854+63C>T	NP_001317418.1:n.1854+63C>T