Canonical Allele Identifier: CA5496896
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49611818G>T
GRCh37 chr10:g.50819864G>T
Revel Score:
ENST00000374115 (MANE Select) 0.530
gnomAD v2:
10:50819864 G / T
gnomAD v3:
10:49611818 G / T
gnomAD v4:
chr10-49611818-G-T
Joint Max Group AF 0.00002074 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002083 (NFE)
ClinVar Allele:
1400285
ClinVar RCV:
RCV002002211
ClinVar Variation:
1448274
dbSNP:
200313362
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611818G>T , CM000672.2:g.49611818G>T GRCh38
NC_000010.10:g.50819864G>T , CM000672.1:g.50819864G>T GRCh37
NC_000010.9:g.50489870G>T NCBI36
NG_011797.1:g.7724G>T
NG_053144.1:g.6518G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.1078G>T (SLC18A3) MANE Select ENSP00000363229.3:p.Gly360Cys
ENST00000339797.5:c.-69+2619G>T (CHAT) ENSP00000343486.1:n.-69+2619G>T
ENST00000374115.4:c.1078G>T (SLC18A3) ENSP00000363229.3:p.Gly360Cys
NM_003055.2:c.1078G>T (SLC18A3) NP_003046.2:p.Gly360Cys
NM_020984.3:c.-69+2619G>T (CHAT) NP_066264.3:n.-69+2619G>T
NM_003055.3:c.1078G>T (SLC18A3) MANE Select NP_003046.2:p.Gly360Cys
NM_020984.4:c.-69+2619G>T (CHAT) NP_066264.4:n.-69+2619G>T
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