Canonical Allele Identifier: CA206620760

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs867665865
• MyVariant Identifiers: chr10:g.50818906_50818907insGATCT (hg19) ; chr10:g.49610860_49610861insGATCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610861_49610862insATCTG , CM000672.2:g.49610861_49610862insATCTG	GRCh38
NC_000010.10:g.50818907_50818908insATCTG , CM000672.1:g.50818907_50818908insATCTG	GRCh37
NC_000010.9:g.50488913_50488914insATCTG	NCBI36
NG_011797.1:g.6767_6768insATCTG
NG_053144.1:g.5561_5562insATCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.121_122insATCTG (SLC18A3) MANE Select	ENSP00000363229.3:p.Val41AspfsTer18
ENST00000339797.5:c.-69+1662_-69+1663insATCTG (CHAT)	ENSP00000343486.1:n.-69+1662_-69+1663insATCTG
ENST00000374115.4:c.121_122insATCTG (SLC18A3)	ENSP00000363229.3:p.Val41AspfsTer18
NM_003055.2:c.121_122insATCTG (SLC18A3)	NP_003046.2:p.Val41AspfsTer18
NM_020984.3:c.-69+1662_-69+1663insATCTG (CHAT)	NP_066264.3:n.-69+1662_-69+1663insATCTG
NM_003055.3:c.121_122insATCTG (SLC18A3) MANE Select	NP_003046.2:p.Val41AspfsTer18
NM_020984.4:c.-69+1662_-69+1663insATCTG (CHAT)	NP_066264.4:n.-69+1662_-69+1663insATCTG