Canonical Allele Identifier: CA4138325

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4790895G>A , CM000669.2:g.4790895G>A	GRCh38
NC_000007.13:g.4830526G>A , CM000669.1:g.4830526G>A	GRCh37
NC_000007.12:g.4797052G>A	NCBI36
NG_028111.1:g.20265G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.2153+8G>A MANE Select	NP_055670.1:n.2153+8G>A
ENST00000649063.2:c.2153+8G>A MANE Select	ENSP00000497815.1:n.2153+8G>A
NM_001364858.1:c.1685+8G>A	NP_001351787.1:n.1685+8G>A
NM_014855.2:c.2153+8G>A	NP_055670.1:n.2153+8G>A
NR_157345.1:n.2284+8G>A
ENST00000348624.4:c.2153+8G>A	ENSP00000297562.4:n.2153+8G>A
ENST00000469614.1:n.1701+8G>A
ENST00000477680.5:n.2440+8G>A
ENST00000477680.6:n.2440+8G>A
ENST00000490487.1:n.304+8G>A
ENST00000496303.5:n.2462+8G>A
ENST00000496303.6:n.1981+8G>A
ENST00000647984.1:c.*1498+8G>A	ENSP00000497794.1:n.*1498+8G>A
ENST00000648237.1:c.304+8G>A
ENST00000648360.1:c.833+8G>A
ENST00000648925.1:c.*556+8G>A	ENSP00000496830.1:n.*556+8G>A
ENST00000649419.1:n.2032+8G>A
ENST00000649736.1:n.1016+8G>A
ENST00000650310.1:c.*724+8G>A	ENSP00000497395.1:n.*724+8G>A
ENST00000650581.1:c.685+8G>A