Canonical Allele Identifier: CA366664441

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4790672G>A , CM000669.2:g.4790672G>A	GRCh38
NC_000007.13:g.4830303G>A , CM000669.1:g.4830303G>A	GRCh37
NC_000007.12:g.4796829G>A	NCBI36
NG_028111.1:g.20042G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1939-1G>A MANE Select	NP_055670.1:n.1939-1G>A
ENST00000649063.2:c.1939-1G>A MANE Select	ENSP00000497815.1:n.1939-1G>A
NM_001364858.1:c.1471-1G>A	NP_001351787.1:n.1471-1G>A
NM_014855.2:c.1939-1G>A	NP_055670.1:n.1939-1G>A
NR_157345.1:n.2070-1G>A
ENST00000348624.4:c.1939-1G>A	ENSP00000297562.4:n.1939-1G>A
ENST00000469614.1:n.1487-1G>A
ENST00000477680.5:n.2226-1G>A
ENST00000477680.6:n.2226-1G>A
ENST00000490487.1:n.226+81G>A
ENST00000496303.5:n.2248-1G>A
ENST00000496303.6:n.1767-1G>A
ENST00000647984.1:c.*1284-1G>A	ENSP00000497794.1:n.*1284-1G>A
ENST00000648237.1:c.226+81G>A
ENST00000648360.1:c.619-1G>A
ENST00000648925.1:c.*342-1G>A	ENSP00000496830.1:n.*342-1G>A
ENST00000649315.1:c.1436-1G>A
ENST00000649419.1:n.1818-1G>A
ENST00000649736.1:n.802-1G>A
ENST00000650310.1:c.*510-1G>A	ENSP00000497395.1:n.*510-1G>A
ENST00000650581.1:c.608-138G>A