Canonical Allele Identifier: CA376721971
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 2080794
ClinVar RCV Id: RCV003002197
dbSNP Id: rs1490669105

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611803C>G , CM000672.2:g.49611803C>G GRCh38
NC_000010.10:g.50819849C>G , CM000672.1:g.50819849C>G GRCh37
NC_000010.9:g.50489855C>G NCBI36
NG_011797.1:g.7709C>G
NG_053144.1:g.6503C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.1063C>G (SLC18A3) MANE Select ENSP00000363229.3:p.Leu355Val
ENST00000339797.5:c.-69+2604C>G (CHAT) ENSP00000343486.1:n.-69+2604C>G
ENST00000374115.4:c.1063C>G (SLC18A3) ENSP00000363229.3:p.Leu355Val
NM_003055.2:c.1063C>G (SLC18A3) NP_003046.2:p.Leu355Val
NM_020984.3:c.-69+2604C>G (CHAT) NP_066264.3:n.-69+2604C>G
NM_003055.3:c.1063C>G (SLC18A3) MANE Select NP_003046.2:p.Leu355Val
NM_020984.4:c.-69+2604C>G (CHAT) NP_066264.4:n.-69+2604C>G