Canonical Allele Identifier: CA376719929
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

dbSNP Id: rs140414320
gnomAD v2: 10-50819432-G-A
gnomAD v4: 10-49611386-G-A
COSMIC: COSM5050211
MyVariant Identifiers: chr10:g.50819432G>A (hg19) chr10:g.49611386G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611386G>A , CM000672.2:g.49611386G>A GRCh38
NC_000010.10:g.50819432G>A , CM000672.1:g.50819432G>A GRCh37
NC_000010.9:g.50489438G>A NCBI36
NG_011797.1:g.7292G>A
NG_053144.1:g.6086G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.646G>A (SLC18A3) MANE Select ENSP00000363229.3:p.Val216Met
ENST00000339797.5:c.-69+2187G>A (CHAT) ENSP00000343486.1:n.-69+2187G>A
ENST00000374115.4:c.646G>A (SLC18A3) ENSP00000363229.3:p.Val216Met
NM_003055.2:c.646G>A (SLC18A3) NP_003046.2:p.Val216Met
NM_020984.3:c.-69+2187G>A (CHAT) NP_066264.3:n.-69+2187G>A
NM_003055.3:c.646G>A (SLC18A3) MANE Select NP_003046.2:p.Val216Met
NM_020984.4:c.-69+2187G>A (CHAT) NP_066264.4:n.-69+2187G>A
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