Canonical Allele Identifier: CA5496717

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs748499497
• ExAC: 10:50819017 GTGGGAGCCCACCC / G
• gnomAD v2: 10-50819017-GTGGGAGCCCACCC-G
• gnomAD v4: 10-49610971-GTGGGAGCCCACCC-G
• MyVariant Identifiers: chr10:g.50819018_50819030del (hg19) ; chr10:g.49610972_49610984del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610974_49610986del , CM000672.2:g.49610974_49610986del	GRCh38
NC_000010.10:g.50819020_50819032del , CM000672.1:g.50819020_50819032del	GRCh37
NC_000010.9:g.50489026_50489038del	NCBI36
NG_011797.1:g.6880_6892del
NG_053144.1:g.5674_5686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.234_246del (SLC18A3) MANE Select	ENSP00000363229.3:p.Trp78CysfsTer?
ENST00000339797.5:c.-69+1775_-69+1787del (CHAT)	ENSP00000343486.1:n.-69+1775_-69+1787del
ENST00000374115.4:c.234_246del (SLC18A3)	ENSP00000363229.3:p.Trp78CysfsTer?
NM_003055.2:c.234_246del (SLC18A3)	NP_003046.2:p.Trp78CysfsTer?
NM_020984.3:c.-69+1775_-69+1787del (CHAT)	NP_066264.3:n.-69+1775_-69+1787del
NM_003055.3:c.234_246del (SLC18A3) MANE Select	NP_003046.2:p.Trp78CysfsTer?
NM_020984.4:c.-69+1775_-69+1787del (CHAT)	NP_066264.4:n.-69+1775_-69+1787del