Canonical Allele Identifier: CA2609117183

Gene: SLC18A3 CHAT

Linked Data

• gnomAD v4: 10-49611845-G-GGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611845_49611846insGCC , CM000672.2:g.49611845_49611846insGCC	GRCh38
NC_000010.10:g.50819891_50819892insGCC , CM000672.1:g.50819891_50819892insGCC	GRCh37
NC_000010.9:g.50489897_50489898insGCC	NCBI36
NG_011797.1:g.7751_7752insGCC
NG_053144.1:g.6545_6546insGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.1105_1106insGCC (SLC18A3) MANE Select	ENSP00000363229.3:p.Ala369delinsGlyPro
ENST00000339797.5:c.-69+2646_-69+2647insGCC (CHAT)	ENSP00000343486.1:n.-69+2646_-69+2647insGCC
ENST00000374115.4:c.1105_1106insGCC (SLC18A3)	ENSP00000363229.3:p.Ala369delinsGlyPro
NM_003055.2:c.1105_1106insGCC (SLC18A3)	NP_003046.2:p.Ala369delinsGlyPro
NM_020984.3:c.-69+2646_-69+2647insGCC (CHAT)	NP_066264.3:n.-69+2646_-69+2647insGCC
NM_003055.3:c.1105_1106insGCC (SLC18A3) MANE Select	NP_003046.2:p.Ala369delinsGlyPro
NM_020984.4:c.-69+2646_-69+2647insGCC (CHAT)	NP_066264.4:n.-69+2646_-69+2647insGCC