Canonical Allele Identifier: CA376720029
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 1305707
ClinVar RCV Id: RCV001768914
dbSNP Id: rs2132686941
gnomAD v4: 10-49611401-A-G
MyVariant Identifiers: chr10:g.50819447A>G (hg19) chr10:g.49611401A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611401A>G , CM000672.2:g.49611401A>G GRCh38
NC_000010.10:g.50819447A>G , CM000672.1:g.50819447A>G GRCh37
NC_000010.9:g.50489453A>G NCBI36
NG_011797.1:g.7307A>G
NG_053144.1:g.6101A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.661A>G (SLC18A3) MANE Select ENSP00000363229.3:p.Ile221Val
ENST00000339797.5:c.-69+2202A>G (CHAT) ENSP00000343486.1:n.-69+2202A>G
ENST00000374115.4:c.661A>G (SLC18A3) ENSP00000363229.3:p.Ile221Val
NM_003055.2:c.661A>G (SLC18A3) NP_003046.2:p.Ile221Val
NM_020984.3:c.-69+2202A>G (CHAT) NP_066264.3:n.-69+2202A>G
NM_003055.3:c.661A>G (SLC18A3) MANE Select NP_003046.2:p.Ile221Val
NM_020984.4:c.-69+2202A>G (CHAT) NP_066264.4:n.-69+2202A>G
Search 100 bp 5'
Search 100 bp 3'