Canonical Allele Identifier: CA2499218905

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4788837C>G , CM000669.2:g.4788837C>G	GRCh38
NC_000007.13:g.4828468C>G , CM000669.1:g.4828468C>G	GRCh37
NC_000007.12:g.4794994C>G	NCBI36
NG_028111.1:g.18207C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1596-3C>G MANE Select	NP_055670.1:n.1596-3C>G
ENST00000649063.2:c.1596-3C>G MANE Select	ENSP00000497815.1:n.1596-3C>G
NM_001364858.1:c.1128-3C>G	NP_001351787.1:n.1128-3C>G
NM_014855.2:c.1596-3C>G	NP_055670.1:n.1596-3C>G
NR_157345.1:n.1727-3C>G
ENST00000348624.4:c.1596-3C>G	ENSP00000297562.4:n.1596-3C>G
ENST00000469614.1:n.612C>G
ENST00000477454.1:n.377-3C>G
ENST00000477680.5:n.1354-3C>G
ENST00000477680.6:n.1354-3C>G
ENST00000496303.5:n.1660-3C>G
ENST00000496303.6:n.1424-3C>G
ENST00000647984.1:c.*941-3C>G	ENSP00000497794.1:n.*941-3C>G
ENST00000648360.1:c.206-3C>G
ENST00000648925.1:c.1596-3C>G	ENSP00000496830.1:n.1596-3C>G
ENST00000649315.1:c.1093-3C>G
ENST00000649419.1:n.1475-3C>G
ENST00000649736.1:n.459-3C>G
ENST00000650310.1:c.*167-3C>G	ENSP00000497395.1:n.*167-3C>G
ENST00000650581.1:c.398-3C>G
XR_242109.1:n.1659-3C>G