Canonical Allele Identifier: CA4137363

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4784378G>A , CM000669.2:g.4784378G>A	GRCh38
NC_000007.13:g.4824009G>A , CM000669.1:g.4824009G>A	GRCh37
NC_000007.12:g.4790535G>A	NCBI36
NG_028111.1:g.13748G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.790+7G>A MANE Select	NP_055670.1:n.790+7G>A
ENST00000649063.2:c.790+7G>A MANE Select	ENSP00000497815.1:n.790+7G>A
NM_001364858.1:c.322+7G>A	NP_001351787.1:n.322+7G>A
NM_014855.2:c.790+7G>A	NP_055670.1:n.790+7G>A
NR_157345.1:n.883+7G>A
ENST00000348624.4:c.790+7G>A	ENSP00000297562.4:n.790+7G>A
ENST00000477680.5:n.548+7G>A
ENST00000477680.6:n.548+7G>A
ENST00000491375.1:n.645+7G>A
ENST00000496303.5:n.854+7G>A
ENST00000496303.6:n.618+7G>A
ENST00000647628.1:n.281+7G>A
ENST00000647984.1:c.*135+7G>A	ENSP00000497794.1:n.*135+7G>A
ENST00000648925.1:c.790+7G>A	ENSP00000496830.1:n.790+7G>A
ENST00000650310.1:c.790+7G>A	ENSP00000497395.1:n.790+7G>A
ENST00000650451.1:c.*135+7G>A	ENSP00000496998.1:n.*135+7G>A
XR_242109.1:n.815+7G>A