Canonical Allele Identifier: CA918671466
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

dbSNP Id: rs1564466126
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611363_49611370del , CM000672.2:g.49611363_49611370del GRCh38
NC_000010.10:g.50819409_50819416del , CM000672.1:g.50819409_50819416del GRCh37
NC_000010.9:g.50489415_50489422del NCBI36
NG_011797.1:g.7269_7276del
NG_053144.1:g.6063_6070del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.623_630del (SLC18A3) MANE Select ENSP00000363229.3:p.Pro208GlnfsTer12
ENST00000339797.5:c.-69+2164_-69+2171del (CHAT) ENSP00000343486.1:n.-69+2164_-69+2171del
ENST00000374115.4:c.623_630del (SLC18A3) ENSP00000363229.3:p.Pro208GlnfsTer12
NM_003055.2:c.623_630del (SLC18A3) NP_003046.2:p.Pro208GlnfsTer12
NM_020984.3:c.-69+2164_-69+2171del (CHAT) NP_066264.3:n.-69+2164_-69+2171del
NM_003055.3:c.623_630del (SLC18A3) MANE Select NP_003046.2:p.Pro208GlnfsTer12
NM_020984.4:c.-69+2164_-69+2171del (CHAT) NP_066264.4:n.-69+2164_-69+2171del
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