Canonical Allele Identifier: CA386960256

Gene: ANAPC5

Linked Data

• gnomAD v4: 12-121318390-A-C
• MyVariant Identifiers: chr12:g.121756193A>C (hg19) ; chr12:g.121318390A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318390A>C , CM000674.2:g.121318390A>C	GRCh38
NC_000012.11:g.121756193A>C , CM000674.1:g.121756193A>C	GRCh37
NC_000012.10:g.120240576A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1780T>G MANE Select	ENSP00000261819.3:p.Ser594Ala
ENST00000261819.7:c.1780T>G	ENSP00000261819.3:p.Ser594Ala
ENST00000441917.6:c.1444T>G	ENSP00000415061.2:p.Ser482Ala
ENST00000534976.5:n.2512T>G
ENST00000535482.1:c.778T>G	ENSP00000438754.1:p.Ser260Ala
ENST00000535641.5:n.1991T>G
ENST00000539079.5:c.1104T>G
ENST00000541887.5:c.1741T>G	ENSP00000439875.1:p.Ser581Ala
ENST00000544314.5:n.898T>G
ENST00000545218.5:n.989-39T>G
NM_001137559.1:c.1444T>G	NP_001131031.1:p.Ser482Ala
NM_016237.4:c.1780T>G	NP_057321.2:p.Ser594Ala
XM_005253900.2:c.1741T>G	XP_005253957.1:p.Ser581Ala
XM_006719449.1:c.586T>G	XP_006719512.1:p.Ser196Ala
NM_001330489.1:c.1741T>G	NP_001317418.1:p.Ser581Ala
XM_017019423.2:c.586T>G	XP_016874912.1:p.Ser196Ala
XM_017019424.2:c.586T>G	XP_016874913.1:p.Ser196Ala
NM_016237.5:c.1780T>G MANE Select	NP_057321.2:p.Ser594Ala
NM_001330489.2:c.1741T>G	NP_001317418.1:p.Ser581Ala