Canonical Allele Identifier: CA376721277
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1449961
ClinVar RCV Id: RCV001989902
dbSNP Id: rs1296151247
gnomAD v4: 10-49611672-C-A
MyVariant Identifiers: chr10:g.50819718C>A (hg19) chr10:g.49611672C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611672C>A , CM000672.2:g.49611672C>A GRCh38
NC_000010.10:g.50819718C>A , CM000672.1:g.50819718C>A GRCh37
NC_000010.9:g.50489724C>A NCBI36
NG_011797.1:g.7578C>A
NG_053144.1:g.6372C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.932C>A (SLC18A3) MANE Select ENSP00000363229.3:p.Thr311Asn
ENST00000339797.5:c.-69+2473C>A (CHAT) ENSP00000343486.1:n.-69+2473C>A
ENST00000374115.4:c.932C>A (SLC18A3) ENSP00000363229.3:p.Thr311Asn
NM_003055.2:c.932C>A (SLC18A3) NP_003046.2:p.Thr311Asn
NM_020984.3:c.-69+2473C>A (CHAT) NP_066264.3:n.-69+2473C>A
NM_003055.3:c.932C>A (SLC18A3) MANE Select NP_003046.2:p.Thr311Asn
NM_020984.4:c.-69+2473C>A (CHAT) NP_066264.4:n.-69+2473C>A
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