Canonical Allele Identifier: CA5496935

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs775908558
• ExAC: 10:50820063 TCTC / T
• gnomAD v2: 10-50820063-TCTC-T
• gnomAD v3: 10-49612017-TCTC-T
• gnomAD v4: 10-49612017-TCTC-T
• MyVariant Identifiers: chr10:g.50820064_50820066del (hg19) ; chr10:g.49612018_49612020del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49612020_49612022del , CM000672.2:g.49612020_49612022del	GRCh38
NC_000010.10:g.50820066_50820068del , CM000672.1:g.50820066_50820068del	GRCh37
NC_000010.9:g.50490072_50490074del	NCBI36
NG_011797.1:g.7926_7928del
NG_053144.1:g.6720_6722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.1280_1282del (SLC18A3) MANE Select	ENSP00000363229.3:p.Ser427del
ENST00000339797.5:c.-69+2821_-69+2823del (CHAT)	ENSP00000343486.1:n.-69+2821_-69+2823del
ENST00000374115.4:c.1280_1282del (SLC18A3)	ENSP00000363229.3:p.Ser427del
NM_003055.2:c.1280_1282del (SLC18A3)	NP_003046.2:p.Ser427del
NM_020984.3:c.-69+2821_-69+2823del (CHAT)	NP_066264.3:n.-69+2821_-69+2823del
NM_003055.3:c.1280_1282del (SLC18A3) MANE Select	NP_003046.2:p.Ser427del
NM_020984.4:c.-69+2821_-69+2823del (CHAT)	NP_066264.4:n.-69+2821_-69+2823del