Canonical Allele Identifier: CA2609116975

Gene: SLC18A3 CHAT

Linked Data

• gnomAD v4: 10-49611783-TGGCGGCGCGCTACCCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611784_49611800del , CM000672.2:g.49611784_49611800del	GRCh38
NC_000010.10:g.50819830_50819846del , CM000672.1:g.50819830_50819846del	GRCh37
NC_000010.9:g.50489836_50489852del	NCBI36
NG_011797.1:g.7690_7706del
NG_053144.1:g.6484_6500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.1044_1060del (SLC18A3) MANE Select	ENSP00000363229.3:p.Ala349ProfsTer?
ENST00000339797.5:c.-69+2585_-69+2601del (CHAT)	ENSP00000343486.1:n.-69+2585_-69+2601del
ENST00000374115.4:c.1044_1060del (SLC18A3)	ENSP00000363229.3:p.Ala349ProfsTer?
NM_003055.2:c.1044_1060del (SLC18A3)	NP_003046.2:p.Ala349ProfsTer?
NM_020984.3:c.-69+2585_-69+2601del (CHAT)	NP_066264.3:n.-69+2585_-69+2601del
NM_003055.3:c.1044_1060del (SLC18A3) MANE Select	NP_003046.2:p.Ala349ProfsTer?
NM_020984.4:c.-69+2585_-69+2601del (CHAT)	NP_066264.4:n.-69+2585_-69+2601del