Canonical Allele Identifier: CA4137063

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4781291C>A , CM000669.2:g.4781291C>A	GRCh38
NC_000007.13:g.4820922C>A , CM000669.1:g.4820922C>A	GRCh37
NC_000007.12:g.4787448C>A	NCBI36
NG_028111.1:g.10661C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.158C>A MANE Select	NP_055670.1:p.Ser53Ter
ENST00000649063.2:c.158C>A MANE Select	ENSP00000497815.1:p.Ser53Ter
NM_001364858.1:c.-124C>A	NP_001351787.1:n.-124C>A
NM_014855.2:c.158C>A	NP_055670.1:p.Ser53Ter
NR_157345.1:n.251C>A
ENST00000348624.4:c.158C>A	ENSP00000297562.4:p.Ser53Ter
ENST00000477680.5:n.125-2025C>A
ENST00000477680.6:n.125-2025C>A
ENST00000496303.5:n.222C>A
ENST00000647984.1:c.158C>A	ENSP00000497794.1:p.Ser53Ter
ENST00000648925.1:c.158C>A	ENSP00000496830.1:p.Ser53Ter
ENST00000650310.1:c.158C>A	ENSP00000497395.1:p.Ser53Ter
ENST00000650451.1:c.158C>A	ENSP00000496998.1:p.Ser53Ter
XR_242109.1:n.183C>A