Canonical Allele Identifier: CA244574737

Gene: ANAPC5

Linked Data

• dbSNP Id: rs142727611
• gnomAD v2: 12-121756139-T-C
• gnomAD v4: 12-121318336-T-C
• MyVariant Identifiers: chr12:g.121756139T>C (hg19) ; chr12:g.121318336T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318336T>C , CM000674.2:g.121318336T>C	GRCh38
NC_000012.11:g.121756139T>C , CM000674.1:g.121756139T>C	GRCh37
NC_000012.10:g.120240522T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1834A>G MANE Select	ENSP00000261819.3:p.Lys612Glu
ENST00000261819.7:c.1834A>G	ENSP00000261819.3:p.Lys612Glu
ENST00000441917.6:c.1498A>G	ENSP00000415061.2:p.Lys500Glu
ENST00000534976.5:n.2566A>G
ENST00000535482.1:c.832A>G	ENSP00000438754.1:p.Lys278Glu
ENST00000535641.5:n.2045A>G
ENST00000539079.5:c.1158A>G
ENST00000541887.5:c.1795A>G	ENSP00000439875.1:p.Lys599Glu
ENST00000544314.5:n.952A>G
ENST00000545218.5:n.1004A>G
NM_001137559.1:c.1498A>G	NP_001131031.1:p.Lys500Glu
NM_016237.4:c.1834A>G	NP_057321.2:p.Lys612Glu
XM_005253900.2:c.1795A>G	XP_005253957.1:p.Lys599Glu
XM_006719449.1:c.640A>G	XP_006719512.1:p.Lys214Glu
NM_001330489.1:c.1795A>G	NP_001317418.1:p.Lys599Glu
XM_017019423.2:c.640A>G	XP_016874912.1:p.Lys214Glu
XM_017019424.2:c.640A>G	XP_016874913.1:p.Lys214Glu
NM_016237.5:c.1834A>G MANE Select	NP_057321.2:p.Lys612Glu
NM_001330489.2:c.1795A>G	NP_001317418.1:p.Lys599Glu