Canonical Allele Identifier: CA4137850

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4788222C>G , CM000669.2:g.4788222C>G	GRCh38
NC_000007.13:g.4827853C>G , CM000669.1:g.4827853C>G	GRCh37
NC_000007.12:g.4794379C>G	NCBI36
NG_028111.1:g.17592C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1523C>G MANE Select	NP_055670.1:p.Ala508Gly
ENST00000649063.2:c.1523C>G MANE Select	ENSP00000497815.1:p.Ala508Gly
NM_001364858.1:c.1055C>G	NP_001351787.1:p.Ala352Gly
NM_014855.2:c.1523C>G	NP_055670.1:p.Ala508Gly
NR_157345.1:n.1654C>G
ENST00000348624.4:c.1523C>G	ENSP00000297562.4:p.Ala508Gly
ENST00000477454.1:n.304C>G
ENST00000477680.5:n.1281C>G
ENST00000477680.6:n.1281C>G
ENST00000496303.5:n.1587C>G
ENST00000496303.6:n.1351C>G
ENST00000647984.1:c.*868C>G	ENSP00000497794.1:n.*868C>G
ENST00000648360.1:c.133C>G
ENST00000648925.1:c.1523C>G	ENSP00000496830.1:p.Ala508Gly
ENST00000649315.1:c.1020C>G
ENST00000649419.1:n.1402C>G
ENST00000649736.1:n.386C>G
ENST00000650310.1:c.*94C>G	ENSP00000497395.1:n.*94C>G
ENST00000650581.1:c.325C>G
XR_242109.1:n.1586C>G