Canonical Allele Identifier: CA1908794817

Gene: SLC18A3 CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611826_49611827delinsTG , CM000672.2:g.49611826_49611827delinsTG	GRCh38
NC_000010.10:g.50819872_50819873delinsTG , CM000672.1:g.50819872_50819873delinsTG	GRCh37
NC_000010.9:g.50489878_50489879delinsTG	NCBI36
NG_011797.1:g.7732_7733delinsTG
NG_053144.1:g.6526_6527delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.1086_1087delinsTG (SLC18A3) MANE Select	ENSP00000363229.3:p.Leu362=
ENST00000339797.5:c.-69+2627_-69+2628delinsTG (CHAT)	ENSP00000343486.1:n.-69+2627_-69+2628delinsTG
ENST00000374115.4:c.1086_1087delinsTG (SLC18A3)	ENSP00000363229.3:p.Leu362=
NM_003055.2:c.1086_1087delinsTG (SLC18A3)	NP_003046.2:p.Leu362=
NM_020984.3:c.-69+2627_-69+2628delinsTG (CHAT)	NP_066264.3:n.-69+2627_-69+2628delinsTG
NM_003055.3:c.1086_1087delinsTG (SLC18A3) MANE Select	NP_003046.2:p.Leu362=
NM_020984.4:c.-69+2627_-69+2628delinsTG (CHAT)	NP_066264.4:n.-69+2627_-69+2628delinsTG