Canonical Allele Identifier: CA386959549

Gene: ANAPC5

Linked Data

• gnomAD v4: 12-121318319-C-A
• COSMIC: COSM25301
• MyVariant Identifiers: chr12:g.121756122C>A (hg19) ; chr12:g.121318319C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318319C>A , CM000674.2:g.121318319C>A	GRCh38
NC_000012.11:g.121756122C>A , CM000674.1:g.121756122C>A	GRCh37
NC_000012.10:g.120240505C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1851G>T MANE Select	ENSP00000261819.3:p.Gln617His
ENST00000261819.7:c.1851G>T	ENSP00000261819.3:p.Gln617His
ENST00000441917.6:c.1515G>T	ENSP00000415061.2:p.Gln505His
ENST00000534976.5:n.2583G>T
ENST00000535482.1:c.849G>T	ENSP00000438754.1:p.Gln283His
ENST00000535641.5:n.2062G>T
ENST00000539079.5:c.1175G>T
ENST00000541887.5:c.1812G>T	ENSP00000439875.1:p.Gln604His
ENST00000544314.5:n.969G>T
ENST00000545218.5:n.1021G>T
NM_001137559.1:c.1515G>T	NP_001131031.1:p.Gln505His
NM_016237.4:c.1851G>T	NP_057321.2:p.Gln617His
XM_005253900.2:c.1812G>T	XP_005253957.1:p.Gln604His
XM_006719449.1:c.657G>T	XP_006719512.1:p.Gln219His
NM_001330489.1:c.1812G>T	NP_001317418.1:p.Gln604His
XM_017019423.2:c.657G>T	XP_016874912.1:p.Gln219His
XM_017019424.2:c.657G>T	XP_016874913.1:p.Gln219His
NM_016237.5:c.1851G>T MANE Select	NP_057321.2:p.Gln617His
NM_001330489.2:c.1812G>T	NP_001317418.1:p.Gln604His