Canonical Allele Identifier: CA2573145178

Gene: SLC18A3 CHAT

Linked Data

• ClinVar Variation Id: 1477885
• ClinVar RCV Id: RCV001998467
• dbSNP Id: rs2132687548

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611619_49611623del , CM000672.2:g.49611619_49611623del	GRCh38
NC_000010.10:g.50819665_50819669del , CM000672.1:g.50819665_50819669del	GRCh37
NC_000010.9:g.50489671_50489675del	NCBI36
NG_011797.1:g.7525_7529del
NG_053144.1:g.6319_6323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.879_883del (SLC18A3) MANE Select	ENSP00000363229.3:p.Val294ArgfsTer7
ENST00000339797.5:c.-69+2420_-69+2424del (CHAT)	ENSP00000343486.1:n.-69+2420_-69+2424del
ENST00000374115.4:c.879_883del (SLC18A3)	ENSP00000363229.3:p.Val294ArgfsTer7
NM_003055.2:c.879_883del (SLC18A3)	NP_003046.2:p.Val294ArgfsTer7
NM_020984.3:c.-69+2420_-69+2424del (CHAT)	NP_066264.3:n.-69+2420_-69+2424del
NM_003055.3:c.879_883del (SLC18A3) MANE Select	NP_003046.2:p.Val294ArgfsTer7
NM_020984.4:c.-69+2420_-69+2424del (CHAT)	NP_066264.4:n.-69+2420_-69+2424del