Canonical Allele Identifier: CA3133677791
Community Standard Title: NM_001284.4(AP3S1):c.70-2915C=
Gene: AP3S1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.115863755C= , CM000667.2:g.115863755C= GRCh38
NC_000005.9:g.115199452C= , CM000667.1:g.115199452C= GRCh37
NC_000005.8:g.115227351C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001284.4:c.70-2915C= MANE Select NP_001275.1:n.70-2915C=
ENST00000316788.12:c.70-2915C= MANE Select ENSP00000325369.7:n.70-2915C=
NM_001002924.2:c.4-2915C= NP_001002924.2:n.4-2915C=
NM_001002924.3:c.4-2915C= NP_001002924.2:n.4-2915C=
NM_001284.2:c.70-2915C= NP_001275.1:n.70-2915C=
NM_001284.3:c.70-2915C= NP_001275.1:n.70-2915C=
NM_001318090.1:c.69+21649C= NP_001305019.1:n.69+21649C=
NM_001318090.2:c.69+21649C= NP_001305019.1:n.69+21649C=
NM_001318091.1:c.70-2915C= NP_001305020.1:n.70-2915C=
NM_001318091.2:c.70-2915C= NP_001305020.1:n.70-2915C=
NM_001318093.1:c.70-2915C= NP_001305022.1:n.70-2915C=
NM_001318093.2:c.70-2915C= NP_001305022.1:n.70-2915C=
NM_001318094.1:c.70-2915C= NP_001305023.1:n.70-2915C=
NM_001318094.2:c.70-2915C= NP_001305023.1:n.70-2915C=
NM_001364119.1:c.70-2915C= NP_001351048.1:n.70-2915C=
NM_001364120.1:c.70-2915C= NP_001351049.1:n.70-2915C=
NM_001364122.1:c.70-2915C= NP_001351051.1:n.70-2915C=
NR_157084.1:n.162-2915C=
NR_157085.1:n.162-2915C=
NR_157086.1:n.162-6262C=
NR_157087.1:n.91-2915C=
NR_157087.2:n.91-2915C=
ENST00000316788.11:c.70-2915C= ENSP00000325369.7:n.70-2915C=
ENST00000395548.6:n.147-2915C=
ENST00000506430.2:c.70-2915C= ENSP00000446179.1:n.70-2915C=
ENST00000509055.1:n.91-2915C=
ENST00000514118.5:n.186-2915C=
ENST00000515066.6:n.162-2915C=
XM_011543135.1:c.70-2915C= XP_011541437.1:n.70-2915C=
XM_011543136.1:c.70-2915C= XP_011541438.1:n.70-2915C=
XM_011543136.3:c.70-2915C= XP_011541438.3:n.70-2915C=
XM_011543137.1:c.70-2915C= XP_011541439.1:n.70-2915C=
XM_011543138.1:c.4-2915C= XP_011541440.1:n.4-2915C=
XM_017009024.2:c.70-2915C= XP_016864513.2:n.70-2915C=
XM_017009025.1:c.370-2915C= XP_016864514.1:n.370-2915C=