Canonical Allele Identifier: CA16042221
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 372159
ClinVar RCV Id: RCV000412561
dbSNP Id: rs1057517665

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611297G>C , CM000672.2:g.49611297G>C GRCh38
NC_000010.10:g.50819343G>C , CM000672.1:g.50819343G>C GRCh37
NC_000010.9:g.50489349G>C NCBI36
NG_011797.1:g.7203G>C
NG_053144.1:g.5997G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374115.5:c.557G>C (SLC18A3) MANE Select ENSP00000363229.3:p.Gly186Ala
ENST00000339797.5:c.-69+2098G>C (CHAT) ENSP00000343486.1:n.-69+2098G>C
ENST00000374115.4:c.557G>C (SLC18A3) ENSP00000363229.3:p.Gly186Ala
NM_003055.2:c.557G>C (SLC18A3) NP_003046.2:p.Gly186Ala
NM_020984.3:c.-69+2098G>C (CHAT) NP_066264.3:n.-69+2098G>C
NM_003055.3:c.557G>C (SLC18A3) MANE Select NP_003046.2:p.Gly186Ala
NM_020984.4:c.-69+2098G>C (CHAT) NP_066264.4:n.-69+2098G>C