Canonical Allele Identifier: CA376719596
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1491532
ClinVar RCV Id: RCV001988708
dbSNP Id: rs1446897176
gnomAD v4: 10-49611335-A-C
MyVariant Identifiers: chr10:g.50819381A>C (hg19) chr10:g.49611335A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611335A>C , CM000672.2:g.49611335A>C GRCh38
NC_000010.10:g.50819381A>C , CM000672.1:g.50819381A>C GRCh37
NC_000010.9:g.50489387A>C NCBI36
NG_011797.1:g.7241A>C
NG_053144.1:g.6035A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.595A>C (SLC18A3) MANE Select ENSP00000363229.3:p.Met199Leu
ENST00000339797.5:c.-69+2136A>C (CHAT) ENSP00000343486.1:n.-69+2136A>C
ENST00000374115.4:c.595A>C (SLC18A3) ENSP00000363229.3:p.Met199Leu
NM_003055.2:c.595A>C (SLC18A3) NP_003046.2:p.Met199Leu
NM_020984.3:c.-69+2136A>C (CHAT) NP_066264.3:n.-69+2136A>C
NM_003055.3:c.595A>C (SLC18A3) MANE Select NP_003046.2:p.Met199Leu
NM_020984.4:c.-69+2136A>C (CHAT) NP_066264.4:n.-69+2136A>C
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