Canonical Allele Identifier: CA153029024

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4787632A>G , CM000669.2:g.4787632A>G	GRCh38
NC_000007.13:g.4827263A>G , CM000669.1:g.4827263A>G	GRCh37
NC_000007.12:g.4793789A>G	NCBI36
NG_028111.1:g.17002A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1312-2A>G MANE Select	NP_055670.1:n.1312-2A>G
ENST00000649063.2:c.1312-2A>G MANE Select	ENSP00000497815.1:n.1312-2A>G
NM_001364858.1:c.844-2A>G	NP_001351787.1:n.844-2A>G
NM_014855.2:c.1312-2A>G	NP_055670.1:n.1312-2A>G
NR_157345.1:n.1441A>G
ENST00000348624.4:c.1312-2A>G	ENSP00000297562.4:n.1312-2A>G
ENST00000477454.1:n.91A>G
ENST00000477680.5:n.1070-2A>G
ENST00000477680.6:n.1070-2A>G
ENST00000496303.5:n.1376-2A>G
ENST00000496303.6:n.1140-2A>G
ENST00000647984.1:c.*657-2A>G	ENSP00000497794.1:n.*657-2A>G
ENST00000648765.1:n.635-2A>G
ENST00000648925.1:c.1312-2A>G	ENSP00000496830.1:n.1312-2A>G
ENST00000649315.1:c.807A>G
ENST00000649419.1:n.1189A>G
ENST00000650310.1:c.1348A>G	ENSP00000497395.1:p.Ser450Gly
ENST00000650581.1:c.114-2A>G
XR_242109.1:n.1373A>G