Canonical Allele Identifier: CA2573145177

Gene: SLC18A3 CHAT

Linked Data

• ClinVar Variation Id: 1392036
• ClinVar RCV Id: RCV001882083
• dbSNP Id: rs2132686512

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611219_49611220delinsTT , CM000672.2:g.49611219_49611220delinsTT	GRCh38
NC_000010.10:g.50819265_50819266delinsTT , CM000672.1:g.50819265_50819266delinsTT	GRCh37
NC_000010.9:g.50489271_50489272delinsTT	NCBI36
NG_011797.1:g.7125_7126delinsTT
NG_053144.1:g.5919_5920delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.479_480delinsTT (SLC18A3) MANE Select	ENSP00000363229.3:p.Gly160Val
ENST00000339797.5:c.-69+2020_-69+2021delinsTT (CHAT)	ENSP00000343486.1:n.-69+2020_-69+2021delinsTT
ENST00000374115.4:c.479_480delinsTT (SLC18A3)	ENSP00000363229.3:p.Gly160Val
NM_003055.2:c.479_480delinsTT (SLC18A3)	NP_003046.2:p.Gly160Val
NM_020984.3:c.-69+2020_-69+2021delinsTT (CHAT)	NP_066264.3:n.-69+2020_-69+2021delinsTT
NM_003055.3:c.479_480delinsTT (SLC18A3) MANE Select	NP_003046.2:p.Gly160Val
NM_020984.4:c.-69+2020_-69+2021delinsTT (CHAT)	NP_066264.4:n.-69+2020_-69+2021delinsTT