Canonical Allele Identifier: CA376721672
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.50819784C>A (hg19) chr10:g.49611738C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611738C>A , CM000672.2:g.49611738C>A GRCh38
NC_000010.10:g.50819784C>A , CM000672.1:g.50819784C>A GRCh37
NC_000010.9:g.50489790C>A NCBI36
NG_011797.1:g.7644C>A
NG_053144.1:g.6438C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374115.5:c.998C>A (SLC18A3) MANE Select ENSP00000363229.3:p.Pro333Gln
ENST00000339797.5:c.-69+2539C>A (CHAT) ENSP00000343486.1:n.-69+2539C>A
ENST00000374115.4:c.998C>A (SLC18A3) ENSP00000363229.3:p.Pro333Gln
NM_003055.2:c.998C>A (SLC18A3) NP_003046.2:p.Pro333Gln
NM_020984.3:c.-69+2539C>A (CHAT) NP_066264.3:n.-69+2539C>A
NM_003055.3:c.998C>A (SLC18A3) MANE Select NP_003046.2:p.Pro333Gln
NM_020984.4:c.-69+2539C>A (CHAT) NP_066264.4:n.-69+2539C>A
Search 100 bp 5'
Search 100 bp 3'