Canonical Allele Identifier: CA386960395

Gene: ANAPC5

Linked Data

• gnomAD v4: 12-121318408-C-A
• MyVariant Identifiers: chr12:g.121756211C>A (hg19) ; chr12:g.121318408C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121318408C>A , CM000674.2:g.121318408C>A	GRCh38
NC_000012.11:g.121756211C>A , CM000674.1:g.121756211C>A	GRCh37
NC_000012.10:g.120240594C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261819.8:c.1762G>T MANE Select	ENSP00000261819.3:p.Ala588Ser
ENST00000261819.7:c.1762G>T	ENSP00000261819.3:p.Ala588Ser
ENST00000441917.6:c.1426G>T	ENSP00000415061.2:p.Ala476Ser
ENST00000534976.5:n.2494G>T
ENST00000535482.1:c.760G>T	ENSP00000438754.1:p.Ala254Ser
ENST00000535641.5:n.1973G>T
ENST00000539079.5:c.1090-4G>T
ENST00000541887.5:c.1723G>T	ENSP00000439875.1:p.Ala575Ser
ENST00000544314.5:n.880G>T
ENST00000545218.5:n.989-57G>T
NM_001137559.1:c.1426G>T	NP_001131031.1:p.Ala476Ser
NM_016237.4:c.1762G>T	NP_057321.2:p.Ala588Ser
XM_005253900.2:c.1723G>T	XP_005253957.1:p.Ala575Ser
XM_006719449.1:c.568G>T	XP_006719512.1:p.Ala190Ser
NM_001330489.1:c.1723G>T	NP_001317418.1:p.Ala575Ser
XM_017019423.2:c.568G>T	XP_016874912.1:p.Ala190Ser
XM_017019424.2:c.568G>T	XP_016874913.1:p.Ala190Ser
NM_016237.5:c.1762G>T MANE Select	NP_057321.2:p.Ala588Ser
NM_001330489.2:c.1723G>T	NP_001317418.1:p.Ala575Ser