Canonical Allele Identifier: CA5496756
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

dbSNP Id: rs750454630
ExAC: 10:50819173 T / C
gnomAD v2: 10-50819173-T-C
gnomAD v4: 10-49611127-T-C
MyVariant Identifiers: chr10:g.50819173T>C (hg19) chr10:g.49611127T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611127T>C , CM000672.2:g.49611127T>C GRCh38
NC_000010.10:g.50819173T>C , CM000672.1:g.50819173T>C GRCh37
NC_000010.9:g.50489179T>C NCBI36
NG_011797.1:g.7033T>C
NG_053144.1:g.5827T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.387T>C (SLC18A3) MANE Select ENSP00000363229.3:p.Ala129=
ENST00000339797.5:c.-69+1928T>C (CHAT) ENSP00000343486.1:n.-69+1928T>C
ENST00000374115.4:c.387T>C (SLC18A3) ENSP00000363229.3:p.Ala129=
NM_003055.2:c.387T>C (SLC18A3) NP_003046.2:p.Ala129=
NM_020984.3:c.-69+1928T>C (CHAT) NP_066264.3:n.-69+1928T>C
NM_003055.3:c.387T>C (SLC18A3) MANE Select NP_003046.2:p.Ala129=
NM_020984.4:c.-69+1928T>C (CHAT) NP_066264.4:n.-69+1928T>C
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