Canonical Allele Identifier: CA1908792107

Gene: SLC18A3 CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610787_49610797delinsAGCTGTCGGAG , CM000672.2:g.49610787_49610797delinsAGCTGTCGGAG	GRCh38
NC_000010.10:g.50818833_50818843delinsAGCTGTCGGAG , CM000672.1:g.50818833_50818843delinsAGCTGTCGGAG	GRCh37
NC_000010.9:g.50488839_50488849delinsAGCTGTCGGAG	NCBI36
NG_011797.1:g.6693_6703delinsAGCTGTCGGAG
NG_053144.1:g.5487_5497delinsAGCTGTCGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.47_57delinsAGCTGTCGGAG (SLC18A3) MANE Select	ENSP00000363229.3:p.Lys16=
ENST00000339797.5:c.-69+1588_-69+1598delinsAGCTGTCGGAG (CHAT)	ENSP00000343486.1:n.-69+1588_-69+1598delinsAGCTGTCGGAG
ENST00000374115.4:c.47_57delinsAGCTGTCGGAG (SLC18A3)	ENSP00000363229.3:p.Lys16=
NM_003055.2:c.47_57delinsAGCTGTCGGAG (SLC18A3)	NP_003046.2:p.Lys16=
NM_020984.3:c.-69+1588_-69+1598delinsAGCTGTCGGAG (CHAT)	NP_066264.3:n.-69+1588_-69+1598delinsAGCTGTCGGAG
NM_003055.3:c.47_57delinsAGCTGTCGGAG (SLC18A3) MANE Select	NP_003046.2:p.Lys16=
NM_020984.4:c.-69+1588_-69+1598delinsAGCTGTCGGAG (CHAT)	NP_066264.4:n.-69+1588_-69+1598delinsAGCTGTCGGAG