Canonical Allele Identifier: CA593780727

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs1388417636
• gnomAD v2: 10-50818835-CTGT-C
• gnomAD v3: 10-49610789-CTGT-C
• gnomAD v4: 10-49610789-CTGT-C
• MyVariant Identifiers: chr10:g.50818836_50818838del (hg19) ; chr10:g.49610790_49610792del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610790_49610792del , CM000672.2:g.49610790_49610792del	GRCh38
NC_000010.10:g.50818836_50818838del , CM000672.1:g.50818836_50818838del	GRCh37
NC_000010.9:g.50488842_50488844del	NCBI36
NG_011797.1:g.6696_6698del
NG_053144.1:g.5490_5492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.50_52del (SLC18A3) MANE Select	ENSP00000363229.3:p.Leu17_Ser18delinsPro
ENST00000339797.5:c.-69+1591_-69+1593del (CHAT)	ENSP00000343486.1:n.-69+1591_-69+1593del
ENST00000374115.4:c.50_52del (SLC18A3)	ENSP00000363229.3:p.Leu17_Ser18delinsPro
NM_003055.2:c.50_52del (SLC18A3)	NP_003046.2:p.Leu17_Ser18delinsPro
NM_020984.3:c.-69+1591_-69+1593del (CHAT)	NP_066264.3:n.-69+1591_-69+1593del
NM_003055.3:c.50_52del (SLC18A3) MANE Select	NP_003046.2:p.Leu17_Ser18delinsPro
NM_020984.4:c.-69+1591_-69+1593del (CHAT)	NP_066264.4:n.-69+1591_-69+1593del