Canonical Allele Identifier: CA376719447
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.50819358T>G (hg19) chr10:g.49611312T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611312T>G , CM000672.2:g.49611312T>G GRCh38
NC_000010.10:g.50819358T>G , CM000672.1:g.50819358T>G GRCh37
NC_000010.9:g.50489364T>G NCBI36
NG_011797.1:g.7218T>G
NG_053144.1:g.6012T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.572T>G (SLC18A3) MANE Select ENSP00000363229.3:p.Phe191Cys
ENST00000339797.5:c.-69+2113T>G (CHAT) ENSP00000343486.1:n.-69+2113T>G
ENST00000374115.4:c.572T>G (SLC18A3) ENSP00000363229.3:p.Phe191Cys
NM_003055.2:c.572T>G (SLC18A3) NP_003046.2:p.Phe191Cys
NM_020984.3:c.-69+2113T>G (CHAT) NP_066264.3:n.-69+2113T>G
NM_003055.3:c.572T>G (SLC18A3) MANE Select NP_003046.2:p.Phe191Cys
NM_020984.4:c.-69+2113T>G (CHAT) NP_066264.4:n.-69+2113T>G
Search 100 bp 5'
Search 100 bp 3'