Canonical Allele Identifier: CA469791219
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1541337
ClinVar RCV Id: RCV002172457
dbSNP Id: rs1564466482
gnomAD v3: 10-49611601-A-G
gnomAD v4: 10-49611601-A-G
MyVariant Identifiers: chr10:g.50819647A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611601A>G , CM000672.2:g.49611601A>G GRCh38
NC_000010.10:g.50819647A>G , CM000672.1:g.50819647A>G GRCh37
NC_000010.9:g.50489653A>G NCBI36
NG_011797.1:g.7507A>G
NG_053144.1:g.6301A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.861A>G (SLC18A3) MANE Select ENSP00000363229.3:p.Leu287=
ENST00000339797.5:c.-69+2402A>G (CHAT) ENSP00000343486.1:n.-69+2402A>G
ENST00000374115.4:c.861A>G (SLC18A3) ENSP00000363229.3:p.Leu287=
NM_003055.2:c.861A>G (SLC18A3) NP_003046.2:p.Leu287=
NM_020984.3:c.-69+2402A>G (CHAT) NP_066264.3:n.-69+2402A>G
NM_003055.3:c.861A>G (SLC18A3) MANE Select NP_003046.2:p.Leu287=
NM_020984.4:c.-69+2402A>G (CHAT) NP_066264.4:n.-69+2402A>G
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