Canonical Allele Identifier: CA4137773

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4787678G>A , CM000669.2:g.4787678G>A	GRCh38
NC_000007.13:g.4827309G>A , CM000669.1:g.4827309G>A	GRCh37
NC_000007.12:g.4793835G>A	NCBI36
NG_028111.1:g.17048G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1356G>A MANE Select	NP_055670.1:p.Ala452=
ENST00000649063.2:c.1356G>A MANE Select	ENSP00000497815.1:p.Ala452=
NM_001364858.1:c.888G>A	NP_001351787.1:p.Ala296=
NM_014855.2:c.1356G>A	NP_055670.1:p.Ala452=
NR_157345.1:n.1487G>A
ENST00000348624.4:c.1356G>A	ENSP00000297562.4:p.Ala452=
ENST00000477454.1:n.137G>A
ENST00000477680.5:n.1114G>A
ENST00000477680.6:n.1114G>A
ENST00000496303.5:n.1420G>A
ENST00000496303.6:n.1184G>A
ENST00000647984.1:c.*701G>A	ENSP00000497794.1:n.*701G>A
ENST00000648765.1:n.679G>A
ENST00000648925.1:c.1356G>A	ENSP00000496830.1:p.Ala452=
ENST00000649315.1:c.853G>A
ENST00000649419.1:n.1235G>A
ENST00000650310.1:c.1394G>A	ENSP00000497395.1:p.Arg465His
ENST00000650581.1:c.158G>A
XR_242109.1:n.1419G>A