Canonical Allele Identifier: CA1908792118

Gene: SLC18A3 CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610789_49610792delinsCTGT , CM000672.2:g.49610789_49610792delinsCTGT	GRCh38
NC_000010.10:g.50818835_50818838delinsCTGT , CM000672.1:g.50818835_50818838delinsCTGT	GRCh37
NC_000010.9:g.50488841_50488844delinsCTGT	NCBI36
NG_011797.1:g.6695_6698delinsCTGT
NG_053144.1:g.5489_5492delinsCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.49_52delinsCTGT (SLC18A3) MANE Select	ENSP00000363229.3:p.Leu17=
ENST00000339797.5:c.-69+1590_-69+1593delinsCTGT (CHAT)	ENSP00000343486.1:n.-69+1590_-69+1593delinsCTGT
ENST00000374115.4:c.49_52delinsCTGT (SLC18A3)	ENSP00000363229.3:p.Leu17=
NM_003055.2:c.49_52delinsCTGT (SLC18A3)	NP_003046.2:p.Leu17=
NM_020984.3:c.-69+1590_-69+1593delinsCTGT (CHAT)	NP_066264.3:n.-69+1590_-69+1593delinsCTGT
NM_003055.3:c.49_52delinsCTGT (SLC18A3) MANE Select	NP_003046.2:p.Leu17=
NM_020984.4:c.-69+1590_-69+1593delinsCTGT (CHAT)	NP_066264.4:n.-69+1590_-69+1593delinsCTGT