Canonical Allele Identifier: CA4137204

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4783365C>T , CM000669.2:g.4783365C>T	GRCh38
NC_000007.13:g.4822996C>T , CM000669.1:g.4822996C>T	GRCh37
NC_000007.12:g.4789522C>T	NCBI36
NG_028111.1:g.12735C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.416C>T MANE Select	NP_055670.1:p.Ala139Val
ENST00000649063.2:c.416C>T MANE Select	ENSP00000497815.1:p.Ala139Val
NM_001364858.1:c.-53C>T	NP_001351787.1:n.-53C>T
NM_014855.2:c.416C>T	NP_055670.1:p.Ala139Val
NR_157345.1:n.509C>T
ENST00000348624.4:c.416C>T	ENSP00000297562.4:p.Ala139Val
ENST00000477680.5:n.174C>T
ENST00000477680.6:n.174C>T
ENST00000491375.1:n.43C>T
ENST00000496303.5:n.480C>T
ENST00000496303.6:n.340-324C>T
ENST00000647984.1:c.229C>T	ENSP00000497794.1:p.Arg77Cys
ENST00000648925.1:c.416C>T	ENSP00000496830.1:p.Ala139Val
ENST00000650310.1:c.416C>T	ENSP00000497395.1:p.Ala139Val
ENST00000650451.1:c.180-838C>T	ENSP00000496998.1:n.180-838C>T
XR_242109.1:n.441C>T