Canonical Allele Identifier: CA1908792679

Gene: SLC18A3 CHAT

Linked Data

• dbSNP Id: rs1838279081
• gnomAD v3: 10-49610996-ACTCCGGC-A
• gnomAD v4: 10-49610996-ACTCCGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610998_49611004del , CM000672.2:g.49610998_49611004del	GRCh38
NC_000010.10:g.50819044_50819050del , CM000672.1:g.50819044_50819050del	GRCh37
NC_000010.9:g.50489050_50489056del	NCBI36
NG_011797.1:g.6904_6910del
NG_053144.1:g.5698_5704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.258_264del (SLC18A3) MANE Select	ENSP00000363229.3:p.Pro87MetfsTer?
ENST00000339797.5:c.-69+1799_-69+1805del (CHAT)	ENSP00000343486.1:n.-69+1799_-69+1805del
ENST00000374115.4:c.258_264del (SLC18A3)	ENSP00000363229.3:p.Pro87MetfsTer?
NM_003055.2:c.258_264del (SLC18A3)	NP_003046.2:p.Pro87MetfsTer?
NM_020984.3:c.-69+1799_-69+1805del (CHAT)	NP_066264.3:n.-69+1799_-69+1805del
NM_003055.3:c.258_264del (SLC18A3) MANE Select	NP_003046.2:p.Pro87MetfsTer?
NM_020984.4:c.-69+1799_-69+1805del (CHAT)	NP_066264.4:n.-69+1799_-69+1805del