Canonical Allele Identifier: CA2609115320

Gene: SLC18A3 CHAT

Linked Data

• gnomAD v4: 10-49611237-C-CGTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611237_49611238insGTAG , CM000672.2:g.49611237_49611238insGTAG	GRCh38
NC_000010.10:g.50819283_50819284insGTAG , CM000672.1:g.50819283_50819284insGTAG	GRCh37
NC_000010.9:g.50489289_50489290insGTAG	NCBI36
NG_011797.1:g.7143_7144insGTAG
NG_053144.1:g.5937_5938insGTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.497_498insGTAG (SLC18A3) MANE Select	ENSP00000363229.3:p.Val167Ter
ENST00000339797.5:c.-69+2038_-69+2039insGTAG (CHAT)	ENSP00000343486.1:n.-69+2038_-69+2039insGTAG
ENST00000374115.4:c.497_498insGTAG (SLC18A3)	ENSP00000363229.3:p.Val167Ter
NM_003055.2:c.497_498insGTAG (SLC18A3)	NP_003046.2:p.Val167Ter
NM_020984.3:c.-69+2038_-69+2039insGTAG (CHAT)	NP_066264.3:n.-69+2038_-69+2039insGTAG
NM_003055.3:c.497_498insGTAG (SLC18A3) MANE Select	NP_003046.2:p.Val167Ter
NM_020984.4:c.-69+2038_-69+2039insGTAG (CHAT)	NP_066264.4:n.-69+2038_-69+2039insGTAG