Canonical Allele Identifier: CA482430283
Gene: ANAPC5 HGNC NCBI

Linked Data

dbSNP Id: rs754328081
MyVariant Identifiers: chr12:g.121756149C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121318346C>G , CM000674.2:g.121318346C>G GRCh38
NC_000012.11:g.121756149C>G , CM000674.1:g.121756149C>G GRCh37
NC_000012.10:g.120240532C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261819.8:c.1824G>C MANE Select ENSP00000261819.3:p.Leu608=
ENST00000261819.7:c.1824G>C ENSP00000261819.3:p.Leu608=
ENST00000441917.6:c.1488G>C ENSP00000415061.2:p.Leu496=
ENST00000534976.5:n.2556G>C
ENST00000535482.1:c.822G>C ENSP00000438754.1:p.Leu274=
ENST00000535641.5:n.2035G>C
ENST00000539079.5:c.1148G>C
ENST00000541887.5:c.1785G>C ENSP00000439875.1:p.Leu595=
ENST00000544314.5:n.942G>C
ENST00000545218.5:n.994G>C
NM_001137559.1:c.1488G>C NP_001131031.1:p.Leu496=
NM_016237.4:c.1824G>C NP_057321.2:p.Leu608=
XM_005253900.2:c.1785G>C XP_005253957.1:p.Leu595=
XM_006719449.1:c.630G>C XP_006719512.1:p.Leu210=
NM_001330489.1:c.1785G>C NP_001317418.1:p.Leu595=
XM_017019423.2:c.630G>C XP_016874912.1:p.Leu210=
XM_017019424.2:c.630G>C XP_016874913.1:p.Leu210=
NM_016237.5:c.1824G>C MANE Select NP_057321.2:p.Leu608=
NM_001330489.2:c.1785G>C NP_001317418.1:p.Leu595=