Canonical Allele Identifier: CA4138456

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4791336G>A , CM000669.2:g.4791336G>A	GRCh38
NC_000007.13:g.4830967G>A , CM000669.1:g.4830967G>A	GRCh37
NC_000007.12:g.4797493G>A	NCBI36
NG_028111.1:g.20706G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.2375G>A MANE Select	NP_055670.1:p.Arg792His
ENST00000649063.2:c.2375G>A MANE Select	ENSP00000497815.1:p.Arg792His
NM_001364858.1:c.1907G>A	NP_001351787.1:p.Arg636His
NM_014855.2:c.2375G>A	NP_055670.1:p.Arg792His
NR_157345.1:n.2506G>A
ENST00000348624.4:c.2375G>A	ENSP00000297562.4:p.Arg792His
ENST00000469614.1:n.1923G>A
ENST00000477680.5:n.2662G>A
ENST00000477680.6:n.2662G>A
ENST00000490487.1:n.526G>A
ENST00000496303.5:n.2684G>A
ENST00000496303.6:n.2203G>A
ENST00000647984.1:c.*1720G>A	ENSP00000497794.1:n.*1720G>A
ENST00000648237.1:c.526G>A
ENST00000648360.1:c.1055G>A
ENST00000648925.1:c.*778G>A	ENSP00000496830.1:n.*778G>A
ENST00000649419.1:n.2254G>A
ENST00000649736.1:n.1238G>A
ENST00000650310.1:c.*946G>A	ENSP00000497395.1:n.*946G>A
ENST00000650581.1:c.907G>A