Canonical Allele Identifier: CA5496681
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

dbSNP Id: rs769325527
ExAC: 10:50818863 A / C
gnomAD v2: 10-50818863-A-C
gnomAD v4: 10-49610817-A-C
MyVariant Identifiers: chr10:g.50818863A>C (hg19) chr10:g.49610817A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49610817A>C , CM000672.2:g.49610817A>C GRCh38
NC_000010.10:g.50818863A>C , CM000672.1:g.50818863A>C GRCh37
NC_000010.9:g.50488869A>C NCBI36
NG_011797.1:g.6723A>C
NG_053144.1:g.5517A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.77A>C (SLC18A3) MANE Select ENSP00000363229.3:p.Gln26Pro
ENST00000339797.5:c.-69+1618A>C (CHAT) ENSP00000343486.1:n.-69+1618A>C
ENST00000374115.4:c.77A>C (SLC18A3) ENSP00000363229.3:p.Gln26Pro
NM_003055.2:c.77A>C (SLC18A3) NP_003046.2:p.Gln26Pro
NM_020984.3:c.-69+1618A>C (CHAT) NP_066264.3:n.-69+1618A>C
NM_003055.3:c.77A>C (SLC18A3) MANE Select NP_003046.2:p.Gln26Pro
NM_020984.4:c.-69+1618A>C (CHAT) NP_066264.4:n.-69+1618A>C
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