Canonical Allele Identifier: CA386960882

Gene: ANAPC5

Linked Data

• dbSNP Id: rs1175039481
• gnomAD v2: 12-121756341-G-A
• gnomAD v4: 12-121318538-G-A
• MyVariant Identifiers: chr12:g.121756341G>A (hg19) ; chr12:g.121318538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318538G>A , CM000674.2:g.121318538G>A	GRCh38
NC_000012.11:g.121756341G>A , CM000674.1:g.121756341G>A	GRCh37
NC_000012.10:g.120240724G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1708C>T MANE Select	ENSP00000261819.3:p.His570Tyr
ENST00000261819.7:c.1708C>T	ENSP00000261819.3:p.His570Tyr
ENST00000366333.3:n.920C>T
ENST00000441917.6:c.1372C>T	ENSP00000415061.2:p.His458Tyr
ENST00000534976.5:n.2364C>T
ENST00000535482.1:c.706C>T	ENSP00000438754.1:p.His236Tyr
ENST00000535641.5:n.1919C>T
ENST00000539079.5:c.1052C>T
ENST00000541887.5:c.1669C>T	ENSP00000439875.1:p.His557Tyr
ENST00000544314.5:n.826C>T
ENST00000545218.5:n.951C>T
NM_001137559.1:c.1372C>T	NP_001131031.1:p.His458Tyr
NM_016237.4:c.1708C>T	NP_057321.2:p.His570Tyr
XM_005253900.2:c.1669C>T	XP_005253957.1:p.His557Tyr
XM_006719449.1:c.514C>T	XP_006719512.1:p.His172Tyr
NM_001330489.1:c.1669C>T	NP_001317418.1:p.His557Tyr
XM_017019423.2:c.514C>T	XP_016874912.1:p.His172Tyr
XM_017019424.2:c.514C>T	XP_016874913.1:p.His172Tyr
NM_016237.5:c.1708C>T MANE Select	NP_057321.2:p.His570Tyr
NM_001330489.2:c.1669C>T	NP_001317418.1:p.His557Tyr