Canonical Allele Identifier: CA386959431

Gene: ANAPC5

Linked Data

• gnomAD v4: 12-121318306-C-A
• MyVariant Identifiers: chr12:g.121756109C>A (hg19) ; chr12:g.121318306C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318306C>A , CM000674.2:g.121318306C>A	GRCh38
NC_000012.11:g.121756109C>A , CM000674.1:g.121756109C>A	GRCh37
NC_000012.10:g.120240492C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1864G>T MANE Select	ENSP00000261819.3:p.Glu622Ter
ENST00000261819.7:c.1864G>T	ENSP00000261819.3:p.Glu622Ter
ENST00000441917.6:c.1528G>T	ENSP00000415061.2:p.Glu510Ter
ENST00000534976.5:n.2596G>T
ENST00000535482.1:c.862G>T	ENSP00000438754.1:p.Glu288Ter
ENST00000535641.5:n.2075G>T
ENST00000539079.5:c.1188G>T
ENST00000541887.5:c.1825G>T	ENSP00000439875.1:p.Glu609Ter
ENST00000544314.5:n.982G>T
ENST00000545218.5:n.1034G>T
NM_001137559.1:c.1528G>T	NP_001131031.1:p.Glu510Ter
NM_016237.4:c.1864G>T	NP_057321.2:p.Glu622Ter
XM_005253900.2:c.1825G>T	XP_005253957.1:p.Glu609Ter
XM_006719449.1:c.670G>T	XP_006719512.1:p.Glu224Ter
NM_001330489.1:c.1825G>T	NP_001317418.1:p.Glu609Ter
XM_017019423.2:c.670G>T	XP_016874912.1:p.Glu224Ter
XM_017019424.2:c.670G>T	XP_016874913.1:p.Glu224Ter
NM_016237.5:c.1864G>T MANE Select	NP_057321.2:p.Glu622Ter
NM_001330489.2:c.1825G>T	NP_001317418.1:p.Glu609Ter