Canonical Allele Identifier: CA5496751
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 3163234
ClinVar RCV Id: RCV004448617
dbSNP Id: rs200894047
COSMIC: COSM918686

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611090C>T , CM000672.2:g.49611090C>T GRCh38
NC_000010.10:g.50819136C>T , CM000672.1:g.50819136C>T GRCh37
NC_000010.9:g.50489142C>T NCBI36
NG_011797.1:g.6996C>T
NG_053144.1:g.5790C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.350C>T (SLC18A3) MANE Select ENSP00000363229.3:p.Thr117Met
ENST00000339797.5:c.-69+1891C>T (CHAT) ENSP00000343486.1:n.-69+1891C>T
ENST00000374115.4:c.350C>T (SLC18A3) ENSP00000363229.3:p.Thr117Met
NM_003055.2:c.350C>T (SLC18A3) NP_003046.2:p.Thr117Met
NM_020984.3:c.-69+1891C>T (CHAT) NP_066264.3:n.-69+1891C>T
NM_003055.3:c.350C>T (SLC18A3) MANE Select NP_003046.2:p.Thr117Met
NM_020984.4:c.-69+1891C>T (CHAT) NP_066264.4:n.-69+1891C>T