Canonical Allele Identifier: CA2609116364
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

gnomAD v4: 10-49611580-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611583del , CM000672.2:g.49611583del GRCh38
NC_000010.10:g.50819629del , CM000672.1:g.50819629del GRCh37
NC_000010.9:g.50489635del NCBI36
NG_011797.1:g.7489del
NG_053144.1:g.6283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.843del (SLC18A3) MANE Select ENSP00000363229.3:p.Ile282SerfsTer6
ENST00000339797.5:c.-69+2384del (CHAT) ENSP00000343486.1:n.-69+2384del
ENST00000374115.4:c.843del (SLC18A3) ENSP00000363229.3:p.Ile282SerfsTer6
NM_003055.2:c.843del (SLC18A3) NP_003046.2:p.Ile282SerfsTer6
NM_020984.3:c.-69+2384del (CHAT) NP_066264.3:n.-69+2384del
NM_003055.3:c.843del (SLC18A3) MANE Select NP_003046.2:p.Ile282SerfsTer6
NM_020984.4:c.-69+2384del (CHAT) NP_066264.4:n.-69+2384del
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