Canonical Allele Identifier: CA376720741
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1303172
ClinVar RCV Id: RCV001756671
dbSNP Id: rs1838295861
MyVariant Identifiers: chr10:g.50819565T>A (hg19) chr10:g.49611519T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611519T>A , CM000672.2:g.49611519T>A GRCh38
NC_000010.10:g.50819565T>A , CM000672.1:g.50819565T>A GRCh37
NC_000010.9:g.50489571T>A NCBI36
NG_011797.1:g.7425T>A
NG_053144.1:g.6219T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.779T>A (SLC18A3) MANE Select ENSP00000363229.3:p.Leu260Gln
ENST00000339797.5:c.-69+2320T>A (CHAT) ENSP00000343486.1:n.-69+2320T>A
ENST00000374115.4:c.779T>A (SLC18A3) ENSP00000363229.3:p.Leu260Gln
NM_003055.2:c.779T>A (SLC18A3) NP_003046.2:p.Leu260Gln
NM_020984.3:c.-69+2320T>A (CHAT) NP_066264.3:n.-69+2320T>A
NM_003055.3:c.779T>A (SLC18A3) MANE Select NP_003046.2:p.Leu260Gln
NM_020984.4:c.-69+2320T>A (CHAT) NP_066264.4:n.-69+2320T>A
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