Canonical Allele Identifier: CA1908794295
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611610C= , CM000672.2:g.49611610C= GRCh38
NC_000010.10:g.50819656C= , CM000672.1:g.50819656C= GRCh37
NC_000010.9:g.50489662C= NCBI36
NG_011797.1:g.7516C=
NG_053144.1:g.6310C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.870C= (SLC18A3) MANE Select ENSP00000363229.3:p.Tyr290=
ENST00000339797.5:c.-69+2411C= (CHAT) ENSP00000343486.1:n.-69+2411C=
ENST00000374115.4:c.870C= (SLC18A3) ENSP00000363229.3:p.Tyr290=
NM_003055.2:c.870C= (SLC18A3) NP_003046.2:p.Tyr290=
NM_020984.3:c.-69+2411C= (CHAT) NP_066264.3:n.-69+2411C=
NM_003055.3:c.870C= (SLC18A3) MANE Select NP_003046.2:p.Tyr290=
NM_020984.4:c.-69+2411C= (CHAT) NP_066264.4:n.-69+2411C=
Search 100 bp 5'
Search 100 bp 3'