Canonical Allele Identifier: CA366673976

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4781313G>T , CM000669.2:g.4781313G>T	GRCh38
NC_000007.13:g.4820944G>T , CM000669.1:g.4820944G>T	GRCh37
NC_000007.12:g.4787470G>T	NCBI36
NG_028111.1:g.10683G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.179+1G>T MANE Select	NP_055670.1:n.179+1G>T
ENST00000649063.2:c.179+1G>T MANE Select	ENSP00000497815.1:n.179+1G>T
NM_001364858.1:c.-103+1G>T	NP_001351787.1:n.-103+1G>T
NM_014855.2:c.179+1G>T	NP_055670.1:n.179+1G>T
NR_157345.1:n.272+1G>T
ENST00000348624.4:c.179+1G>T	ENSP00000297562.4:n.179+1G>T
ENST00000477680.5:n.125-2003G>T
ENST00000477680.6:n.125-2003G>T
ENST00000496303.5:n.243+1G>T
ENST00000647984.1:c.179+1G>T	ENSP00000497794.1:n.179+1G>T
ENST00000648925.1:c.179+1G>T	ENSP00000496830.1:n.179+1G>T
ENST00000650310.1:c.179+1G>T	ENSP00000497395.1:n.179+1G>T
ENST00000650451.1:c.179+1G>T	ENSP00000496998.1:n.179+1G>T
XR_242109.1:n.204+1G>T