Canonical Allele Identifier: CA5496689
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1641101
ClinVar RCV Id: RCV002134173
dbSNP Id: rs140489850
ExAC: 10:50818876 G / A
gnomAD v2: 10-50818876-G-A
gnomAD v3: 10-49610830-G-A
gnomAD v4: 10-49610830-G-A
MyVariant Identifiers: chr10:g.50818876G>A (hg19) chr10:g.49610830G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49610830G>A , CM000672.2:g.49610830G>A GRCh38
NC_000010.10:g.50818876G>A , CM000672.1:g.50818876G>A GRCh37
NC_000010.9:g.50488882G>A NCBI36
NG_011797.1:g.6736G>A
NG_053144.1:g.5530G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.90G>A (SLC18A3) MANE Select ENSP00000363229.3:p.Arg30=
ENST00000339797.5:c.-69+1631G>A (CHAT) ENSP00000343486.1:n.-69+1631G>A
ENST00000374115.4:c.90G>A (SLC18A3) ENSP00000363229.3:p.Arg30=
NM_003055.2:c.90G>A (SLC18A3) NP_003046.2:p.Arg30=
NM_020984.3:c.-69+1631G>A (CHAT) NP_066264.3:n.-69+1631G>A
NM_003055.3:c.90G>A (SLC18A3) MANE Select NP_003046.2:p.Arg30=
NM_020984.4:c.-69+1631G>A (CHAT) NP_066264.4:n.-69+1631G>A
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Search 100 bp 3'