Canonical Allele Identifier: CA4137124
Gene: AP5Z1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.4781647G>A
GRCh37 chr7:g.4821278G>A
Revel Score:
ENST00000348624 0.052
ENST00000401897 0.052
gnomAD v2:
7:4821278 G / A
gnomAD v3:
7:4781647 G / A
gnomAD v4:
chr7-4781647-G-A
Joint Max Group AF 0.00296069 (AMR)
Genomes Max Group AF 0.00030675 (AMR)
Exomes Max Group AF 0.00378574 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.4781647G>A , CM000669.2:g.4781647G>A GRCh38
NC_000007.13:g.4821278G>A , CM000669.1:g.4821278G>A GRCh37
NC_000007.12:g.4787804G>A NCBI36
NG_028111.1:g.11017G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000477680.6:n.125-1669G>A
ENST00000496303.6:n.35G>A
ENST00000647984.1:c.179+335G>A ENSP00000497794.1:n.179+335G>A
ENST00000648925.1:c.259G>A ENSP00000496830.1:p.Ala87Thr
ENST00000649063.2:c.259G>A MANE Select ENSP00000497815.1:p.Ala87Thr
ENST00000650310.1:c.259G>A ENSP00000497395.1:p.Ala87Thr
ENST00000650451.1:c.179+335G>A ENSP00000496998.1:n.179+335G>A
ENST00000348624.4:c.259G>A ENSP00000297562.4:p.Ala87Thr
ENST00000477680.5:n.125-1669G>A
ENST00000496303.5:n.323G>A
NM_014855.2:c.259G>A NP_055670.1:p.Ala87Thr
XR_242109.1:n.284G>A
NM_001364858.1:c.-103+335G>A NP_001351787.1:n.-103+335G>A
NM_014855.3:c.259G>A MANE Select NP_055670.1:p.Ala87Thr
NR_157345.1:n.352G>A
Search 100 bp 5'
Search 100 bp 3'