Canonical Allele Identifier: CA2787933732

Gene: SLC18A3 CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610887_49610888dup , CM000672.2:g.49610887_49610888dup	GRCh38
NC_000010.10:g.50818933_50818934dup , CM000672.1:g.50818933_50818934dup	GRCh37
NC_000010.9:g.50488939_50488940dup	NCBI36
NG_011797.1:g.6793_6794dup
NG_053144.1:g.5587_5588dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.147_148dup (SLC18A3) MANE Select	ENSP00000363229.3:p.Tyr50CysfsTer8
ENST00000339797.5:c.-69+1688_-69+1689dup (CHAT)	ENSP00000343486.1:n.-69+1688_-69+1689dup
ENST00000374115.4:c.147_148dup (SLC18A3)	ENSP00000363229.3:p.Tyr50CysfsTer8
NM_003055.2:c.147_148dup (SLC18A3)	NP_003046.2:p.Tyr50CysfsTer8
NM_020984.3:c.-69+1688_-69+1689dup (CHAT)	NP_066264.3:n.-69+1688_-69+1689dup
NM_003055.3:c.147_148dup (SLC18A3) MANE Select	NP_003046.2:p.Tyr50CysfsTer8
NM_020984.4:c.-69+1688_-69+1689dup (CHAT)	NP_066264.4:n.-69+1688_-69+1689dup