Canonical Allele Identifier: CA2609117158

Gene: SLC18A3 CHAT

Linked Data

• gnomAD v4: 10-49611843-G-GGGCTGGCTGTGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611843_49611844insGGCTGGCTGTGAT , CM000672.2:g.49611843_49611844insGGCTGGCTGTGAT	GRCh38
NC_000010.10:g.50819889_50819890insGGCTGGCTGTGAT , CM000672.1:g.50819889_50819890insGGCTGGCTGTGAT	GRCh37
NC_000010.9:g.50489895_50489896insGGCTGGCTGTGAT	NCBI36
NG_011797.1:g.7749_7750insGGCTGGCTGTGAT
NG_053144.1:g.6543_6544insGGCTGGCTGTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.1103_1104insGGCTGGCTGTGAT (SLC18A3) MANE Select	ENSP00000363229.3:p.Ser370GlyfsTer?
ENST00000339797.5:c.-69+2644_-69+2645insGGCTGGCTGTGAT (CHAT)	ENSP00000343486.1:n.-69+2644_-69+2645insGGCTGGCTGTGAT
ENST00000374115.4:c.1103_1104insGGCTGGCTGTGAT (SLC18A3)	ENSP00000363229.3:p.Ser370GlyfsTer?
NM_003055.2:c.1103_1104insGGCTGGCTGTGAT (SLC18A3)	NP_003046.2:p.Ser370GlyfsTer?
NM_020984.3:c.-69+2644_-69+2645insGGCTGGCTGTGAT (CHAT)	NP_066264.3:n.-69+2644_-69+2645insGGCTGGCTGTGAT
NM_003055.3:c.1103_1104insGGCTGGCTGTGAT (SLC18A3) MANE Select	NP_003046.2:p.Ser370GlyfsTer?
NM_020984.4:c.-69+2644_-69+2645insGGCTGGCTGTGAT (CHAT)	NP_066264.4:n.-69+2644_-69+2645insGGCTGGCTGTGAT