Canonical Allele Identifier: CA5496912
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 2776520
ClinVar RCV Id: RCV003664735
dbSNP Id: rs557909255
ExAC: 10:50819941 C / T
gnomAD v2: 10-50819941-C-T
gnomAD v3: 10-49611895-C-T
gnomAD v4: 10-49611895-C-T
MyVariant Identifiers: chr10:g.50819941C>T (hg19) chr10:g.49611895C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611895C>T , CM000672.2:g.49611895C>T GRCh38
NC_000010.10:g.50819941C>T , CM000672.1:g.50819941C>T GRCh37
NC_000010.9:g.50489947C>T NCBI36
NG_011797.1:g.7801C>T
NG_053144.1:g.6595C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.1155C>T (SLC18A3) MANE Select ENSP00000363229.3:p.Val385=
ENST00000339797.5:c.-69+2696C>T (CHAT) ENSP00000343486.1:n.-69+2696C>T
ENST00000374115.4:c.1155C>T (SLC18A3) ENSP00000363229.3:p.Val385=
NM_003055.2:c.1155C>T (SLC18A3) NP_003046.2:p.Val385=
NM_020984.3:c.-69+2696C>T (CHAT) NP_066264.3:n.-69+2696C>T
NM_003055.3:c.1155C>T (SLC18A3) MANE Select NP_003046.2:p.Val385=
NM_020984.4:c.-69+2696C>T (CHAT) NP_066264.4:n.-69+2696C>T
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