Canonical Allele Identifier: CA4137324

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4784280A>G , CM000669.2:g.4784280A>G	GRCh38
NC_000007.13:g.4823911A>G , CM000669.1:g.4823911A>G	GRCh37
NC_000007.12:g.4790437A>G	NCBI36
NG_028111.1:g.13650A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.699A>G MANE Select	NP_055670.1:p.Thr233=
ENST00000649063.2:c.699A>G MANE Select	ENSP00000497815.1:p.Thr233=
NM_001364858.1:c.231A>G	NP_001351787.1:p.Thr77=
NM_014855.2:c.699A>G	NP_055670.1:p.Thr233=
NR_157345.1:n.792A>G
ENST00000348624.4:c.699A>G	ENSP00000297562.4:p.Thr233=
ENST00000477680.5:n.457A>G
ENST00000477680.6:n.457A>G
ENST00000491375.1:n.554A>G
ENST00000496303.5:n.763A>G
ENST00000496303.6:n.527A>G
ENST00000647628.1:n.190A>G
ENST00000647984.1:c.*44A>G	ENSP00000497794.1:n.*44A>G
ENST00000648925.1:c.699A>G	ENSP00000496830.1:p.Thr233=
ENST00000650310.1:c.699A>G	ENSP00000497395.1:p.Thr233=
ENST00000650451.1:c.*44A>G	ENSP00000496998.1:n.*44A>G
XR_242109.1:n.724A>G