Canonical Allele Identifier: CA4137417

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4784955A>G , CM000669.2:g.4784955A>G	GRCh38
NC_000007.13:g.4824586A>G , CM000669.1:g.4824586A>G	GRCh37
NC_000007.12:g.4791112A>G	NCBI36
NG_028111.1:g.14325A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.838A>G MANE Select	NP_055670.1:p.Thr280Ala
ENST00000649063.2:c.838A>G MANE Select	ENSP00000497815.1:p.Thr280Ala
NM_001364858.1:c.370A>G	NP_001351787.1:p.Thr124Ala
NM_014855.2:c.838A>G	NP_055670.1:p.Thr280Ala
NR_157345.1:n.931A>G
ENST00000348624.4:c.838A>G	ENSP00000297562.4:p.Thr280Ala
ENST00000477680.5:n.596A>G
ENST00000477680.6:n.596A>G
ENST00000491375.1:n.693A>G
ENST00000496303.5:n.902A>G
ENST00000496303.6:n.666A>G
ENST00000647628.1:n.329A>G
ENST00000647984.1:c.*183A>G	ENSP00000497794.1:n.*183A>G
ENST00000648925.1:c.838A>G	ENSP00000496830.1:p.Thr280Ala
ENST00000649315.1:c.48A>G
ENST00000649419.1:n.45A>G
ENST00000650310.1:c.838A>G	ENSP00000497395.1:p.Thr280Ala
XR_242109.1:n.863A>G