Canonical Allele Identifier: CA206620756

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs867155194

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610847_49610848insCCGATCT , CM000672.2:g.49610847_49610848insCCGATCT	GRCh38
NC_000010.10:g.50818893_50818894insCCGATCT , CM000672.1:g.50818893_50818894insCCGATCT	GRCh37
NC_000010.9:g.50488899_50488900insCCGATCT	NCBI36
NG_011797.1:g.6753_6754insCCGATCT
NG_053144.1:g.5547_5548insCCGATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.107_108insCCGATCT (SLC18A3) MANE Select	ENSP00000363229.3:p.Val37ArgfsTer?
ENST00000339797.5:c.-69+1648_-69+1649insCCGATCT (CHAT)	ENSP00000343486.1:n.-69+1648_-69+1649insCCGATCT
ENST00000374115.4:c.107_108insCCGATCT (SLC18A3)	ENSP00000363229.3:p.Val37ArgfsTer?
NM_003055.2:c.107_108insCCGATCT (SLC18A3)	NP_003046.2:p.Val37ArgfsTer?
NM_020984.3:c.-69+1648_-69+1649insCCGATCT (CHAT)	NP_066264.3:n.-69+1648_-69+1649insCCGATCT
NM_003055.3:c.107_108insCCGATCT (SLC18A3) MANE Select	NP_003046.2:p.Val37ArgfsTer?
NM_020984.4:c.-69+1648_-69+1649insCCGATCT (CHAT)	NP_066264.4:n.-69+1648_-69+1649insCCGATCT