Canonical Allele Identifier: CA376718671
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 2985423
ClinVar RCV Id: RCV003848550
dbSNP Id: rs1428425011
gnomAD v2: 10-50819242-C-A
gnomAD v4: 10-49611196-C-A
MyVariant Identifiers: chr10:g.50819242C>A (hg19) chr10:g.49611196C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611196C>A , CM000672.2:g.49611196C>A GRCh38
NC_000010.10:g.50819242C>A , CM000672.1:g.50819242C>A GRCh37
NC_000010.9:g.50489248C>A NCBI36
NG_011797.1:g.7102C>A
NG_053144.1:g.5896C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.456C>A (SLC18A3) MANE Select ENSP00000363229.3:p.Asp152Glu
ENST00000339797.5:c.-69+1997C>A (CHAT) ENSP00000343486.1:n.-69+1997C>A
ENST00000374115.4:c.456C>A (SLC18A3) ENSP00000363229.3:p.Asp152Glu
NM_003055.2:c.456C>A (SLC18A3) NP_003046.2:p.Asp152Glu
NM_020984.3:c.-69+1997C>A (CHAT) NP_066264.3:n.-69+1997C>A
NM_003055.3:c.456C>A (SLC18A3) MANE Select NP_003046.2:p.Asp152Glu
NM_020984.4:c.-69+1997C>A (CHAT) NP_066264.4:n.-69+1997C>A
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