Canonical Allele Identifier: CA1908794616

Gene: SLC18A3 CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611759_49611761delinsTGG , CM000672.2:g.49611759_49611761delinsTGG	GRCh38
NC_000010.10:g.50819805_50819807delinsTGG , CM000672.1:g.50819805_50819807delinsTGG	GRCh37
NC_000010.9:g.50489811_50489813delinsTGG	NCBI36
NG_011797.1:g.7665_7667delinsTGG
NG_053144.1:g.6459_6461delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.1019_1021delinsTGG (SLC18A3) MANE Select	ENSP00000363229.3:p.Leu340=
ENST00000339797.5:c.-69+2560_-69+2562delinsTGG (CHAT)	ENSP00000343486.1:n.-69+2560_-69+2562delinsTGG
ENST00000374115.4:c.1019_1021delinsTGG (SLC18A3)	ENSP00000363229.3:p.Leu340=
NM_003055.2:c.1019_1021delinsTGG (SLC18A3)	NP_003046.2:p.Leu340=
NM_020984.3:c.-69+2560_-69+2562delinsTGG (CHAT)	NP_066264.3:n.-69+2560_-69+2562delinsTGG
NM_003055.3:c.1019_1021delinsTGG (SLC18A3) MANE Select	NP_003046.2:p.Leu340=
NM_020984.4:c.-69+2560_-69+2562delinsTGG (CHAT)	NP_066264.4:n.-69+2560_-69+2562delinsTGG