Canonical Allele Identifier: CA376718223
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1308564
ClinVar RCV Id: RCV001763476
dbSNP Id: rs1323111953
gnomAD v3: 10-49611074-C-T
gnomAD v4: 10-49611074-C-T
MyVariant Identifiers: chr10:g.50819120C>T (hg19) chr10:g.49611074C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611074C>T , CM000672.2:g.49611074C>T GRCh38
NC_000010.10:g.50819120C>T , CM000672.1:g.50819120C>T GRCh37
NC_000010.9:g.50489126C>T NCBI36
NG_011797.1:g.6980C>T
NG_053144.1:g.5774C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.334C>T (SLC18A3) MANE Select ENSP00000363229.3:p.Arg112Trp
ENST00000339797.5:c.-69+1875C>T (CHAT) ENSP00000343486.1:n.-69+1875C>T
ENST00000374115.4:c.334C>T (SLC18A3) ENSP00000363229.3:p.Arg112Trp
NM_003055.2:c.334C>T (SLC18A3) NP_003046.2:p.Arg112Trp
NM_020984.3:c.-69+1875C>T (CHAT) NP_066264.3:n.-69+1875C>T
NM_003055.3:c.334C>T (SLC18A3) MANE Select NP_003046.2:p.Arg112Trp
NM_020984.4:c.-69+1875C>T (CHAT) NP_066264.4:n.-69+1875C>T
Search 100 bp 5'
Search 100 bp 3'