Canonical Allele Identifier: CA5496852
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 2960029
ClinVar RCV Id: RCV003814789
dbSNP Id: rs775965436
ExAC: 10:50819629 C / G
gnomAD v2: 10-50819629-C-G
gnomAD v3: 10-49611583-C-G
gnomAD v4: 10-49611583-C-G
MyVariant Identifiers: chr10:g.50819629C>G (hg19) chr10:g.49611583C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611583C>G , CM000672.2:g.49611583C>G GRCh38
NC_000010.10:g.50819629C>G , CM000672.1:g.50819629C>G GRCh37
NC_000010.9:g.50489635C>G NCBI36
NG_011797.1:g.7489C>G
NG_053144.1:g.6283C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.843C>G (SLC18A3) MANE Select ENSP00000363229.3:p.Pro281=
ENST00000339797.5:c.-69+2384C>G (CHAT) ENSP00000343486.1:n.-69+2384C>G
ENST00000374115.4:c.843C>G (SLC18A3) ENSP00000363229.3:p.Pro281=
NM_003055.2:c.843C>G (SLC18A3) NP_003046.2:p.Pro281=
NM_020984.3:c.-69+2384C>G (CHAT) NP_066264.3:n.-69+2384C>G
NM_003055.3:c.843C>G (SLC18A3) MANE Select NP_003046.2:p.Pro281=
NM_020984.4:c.-69+2384C>G (CHAT) NP_066264.4:n.-69+2384C>G
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