Canonical Allele Identifier: CA366661086

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4785049G>A , CM000669.2:g.4785049G>A	GRCh38
NC_000007.13:g.4824680G>A , CM000669.1:g.4824680G>A	GRCh37
NC_000007.12:g.4791206G>A	NCBI36
NG_028111.1:g.14419G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.931+1G>A MANE Select	NP_055670.1:n.931+1G>A
ENST00000649063.2:c.931+1G>A MANE Select	ENSP00000497815.1:n.931+1G>A
NM_001364858.1:c.463+1G>A	NP_001351787.1:n.463+1G>A
NM_014855.2:c.931+1G>A	NP_055670.1:n.931+1G>A
NR_157345.1:n.1024+1G>A
ENST00000348624.4:c.931+1G>A	ENSP00000297562.4:n.931+1G>A
ENST00000477680.5:n.689+1G>A
ENST00000477680.6:n.689+1G>A
ENST00000496303.5:n.995+1G>A
ENST00000496303.6:n.759+1G>A
ENST00000647628.1:n.422+1G>A
ENST00000647984.1:c.*276+1G>A	ENSP00000497794.1:n.*276+1G>A
ENST00000648925.1:c.931+1G>A	ENSP00000496830.1:n.931+1G>A
ENST00000649315.1:c.141+1G>A
ENST00000649419.1:n.138+1G>A
ENST00000650310.1:c.931+1G>A	ENSP00000497395.1:n.931+1G>A
XR_242109.1:n.956+1G>A