Canonical Allele Identifier: CA376715577
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

dbSNP Id: rs1838272170
gnomAD v3: 10-49610814-T-G
gnomAD v4: 10-49610814-T-G
COSMIC: COSM2145545
MyVariant Identifiers: chr10:g.50818860T>G (hg19) chr10:g.49610814T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49610814T>G , CM000672.2:g.49610814T>G GRCh38
NC_000010.10:g.50818860T>G , CM000672.1:g.50818860T>G GRCh37
NC_000010.9:g.50488866T>G NCBI36
NG_011797.1:g.6720T>G
NG_053144.1:g.5514T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.74T>G (SLC18A3) MANE Select ENSP00000363229.3:p.Leu25Arg
ENST00000339797.5:c.-69+1615T>G (CHAT) ENSP00000343486.1:n.-69+1615T>G
ENST00000374115.4:c.74T>G (SLC18A3) ENSP00000363229.3:p.Leu25Arg
NM_003055.2:c.74T>G (SLC18A3) NP_003046.2:p.Leu25Arg
NM_020984.3:c.-69+1615T>G (CHAT) NP_066264.3:n.-69+1615T>G
NM_003055.3:c.74T>G (SLC18A3) MANE Select NP_003046.2:p.Leu25Arg
NM_020984.4:c.-69+1615T>G (CHAT) NP_066264.4:n.-69+1615T>G
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