Canonical Allele Identifier: CA5496893

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs776604298
• ExAC: 10:50819842 CCCACA / C
• gnomAD v2: 10-50819842-CCCACA-C
• gnomAD v3: 10-49611796-CCCACA-C
• gnomAD v4: 10-49611796-CCCACA-C
• MyVariant Identifiers: chr10:g.50819843_50819847del (hg19) ; chr10:g.49611797_49611801del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611799_49611803del , CM000672.2:g.49611799_49611803del	GRCh38
NC_000010.10:g.50819845_50819849del , CM000672.1:g.50819845_50819849del	GRCh37
NC_000010.9:g.50489851_50489855del	NCBI36
NG_011797.1:g.7705_7709del
NG_053144.1:g.6499_6503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.1059_1063del (SLC18A3) MANE Select	ENSP00000363229.3:p.His354AlafsTer?
ENST00000339797.5:c.-69+2600_-69+2604del (CHAT)	ENSP00000343486.1:n.-69+2600_-69+2604del
ENST00000374115.4:c.1059_1063del (SLC18A3)	ENSP00000363229.3:p.His354AlafsTer?
NM_003055.2:c.1059_1063del (SLC18A3)	NP_003046.2:p.His354AlafsTer?
NM_020984.3:c.-69+2600_-69+2604del (CHAT)	NP_066264.3:n.-69+2600_-69+2604del
NM_003055.3:c.1059_1063del (SLC18A3) MANE Select	NP_003046.2:p.His354AlafsTer?
NM_020984.4:c.-69+2600_-69+2604del (CHAT)	NP_066264.4:n.-69+2600_-69+2604del