Canonical Allele Identifier: CA206620711
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

dbSNP Id: rs905078385
gnomAD v3: 10-49610788-G-C
gnomAD v4: 10-49610788-G-C
MyVariant Identifiers: chr10:g.50818834G>C (hg19) chr10:g.49610788G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49610788G>C , CM000672.2:g.49610788G>C GRCh38
NC_000010.10:g.50818834G>C , CM000672.1:g.50818834G>C GRCh37
NC_000010.9:g.50488840G>C NCBI36
NG_011797.1:g.6694G>C
NG_053144.1:g.5488G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.48G>C (SLC18A3) MANE Select ENSP00000363229.3:p.Lys16Asn
ENST00000339797.5:c.-69+1589G>C (CHAT) ENSP00000343486.1:n.-69+1589G>C
ENST00000374115.4:c.48G>C (SLC18A3) ENSP00000363229.3:p.Lys16Asn
NM_003055.2:c.48G>C (SLC18A3) NP_003046.2:p.Lys16Asn
NM_020984.3:c.-69+1589G>C (CHAT) NP_066264.3:n.-69+1589G>C
NM_003055.3:c.48G>C (SLC18A3) MANE Select NP_003046.2:p.Lys16Asn
NM_020984.4:c.-69+1589G>C (CHAT) NP_066264.4:n.-69+1589G>C
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