Canonical Allele Identifier: CA376721034
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1348564
ClinVar RCV Id: RCV002044381
dbSNP Id: rs2132687477
gnomAD v4: 10-49611591-G-A
MyVariant Identifiers: chr10:g.50819637G>A (hg19) chr10:g.49611591G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611591G>A , CM000672.2:g.49611591G>A GRCh38
NC_000010.10:g.50819637G>A , CM000672.1:g.50819637G>A GRCh37
NC_000010.9:g.50489643G>A NCBI36
NG_011797.1:g.7497G>A
NG_053144.1:g.6291G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.851G>A (SLC18A3) MANE Select ENSP00000363229.3:p.Arg284His
ENST00000339797.5:c.-69+2392G>A (CHAT) ENSP00000343486.1:n.-69+2392G>A
ENST00000374115.4:c.851G>A (SLC18A3) ENSP00000363229.3:p.Arg284His
NM_003055.2:c.851G>A (SLC18A3) NP_003046.2:p.Arg284His
NM_020984.3:c.-69+2392G>A (CHAT) NP_066264.3:n.-69+2392G>A
NM_003055.3:c.851G>A (SLC18A3) MANE Select NP_003046.2:p.Arg284His
NM_020984.4:c.-69+2392G>A (CHAT) NP_066264.4:n.-69+2392G>A
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