Canonical Allele Identifier: CA4137234

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4783466C>T , CM000669.2:g.4783466C>T	GRCh38
NC_000007.13:g.4823097C>T , CM000669.1:g.4823097C>T	GRCh37
NC_000007.12:g.4789623C>T	NCBI36
NG_028111.1:g.12836C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.511+6C>T MANE Select	NP_055670.1:n.511+6C>T
ENST00000649063.2:c.511+6C>T MANE Select	ENSP00000497815.1:n.511+6C>T
NM_001364858.1:c.43+6C>T	NP_001351787.1:n.43+6C>T
NM_014855.2:c.511+6C>T	NP_055670.1:n.511+6C>T
NR_157345.1:n.604+6C>T
ENST00000348624.4:c.511+6C>T	ENSP00000297562.4:n.511+6C>T
ENST00000477680.5:n.269+6C>T
ENST00000477680.6:n.269+6C>T
ENST00000491375.1:n.144C>T
ENST00000496303.5:n.575+6C>T
ENST00000496303.6:n.340-223C>T
ENST00000647628.1:n.2+6C>T
ENST00000647984.1:c.324+6C>T	ENSP00000497794.1:n.324+6C>T
ENST00000648925.1:c.511+6C>T	ENSP00000496830.1:n.511+6C>T
ENST00000650310.1:c.511+6C>T	ENSP00000497395.1:n.511+6C>T
ENST00000650451.1:c.180-737C>T	ENSP00000496998.1:n.180-737C>T
XR_242109.1:n.536+6C>T