Canonical Allele Identifier: CA2609114943

Gene: SLC18A3 CHAT

Linked Data

• gnomAD v4: 10-49611027-ACACCTCGGCGTCCCCGACAGCTGCGTGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49611030_49611058del , CM000672.2:g.49611030_49611058del	GRCh38
NC_000010.10:g.50819076_50819104del , CM000672.1:g.50819076_50819104del	GRCh37
NC_000010.9:g.50489082_50489110del	NCBI36
NG_011797.1:g.6936_6964del
NG_053144.1:g.5730_5758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.290_318del (SLC18A3) MANE Select	ENSP00000363229.3:p.Thr97SerfsTer?
ENST00000339797.5:c.-69+1831_-69+1859del (CHAT)	ENSP00000343486.1:n.-69+1831_-69+1859del
ENST00000374115.4:c.290_318del (SLC18A3)	ENSP00000363229.3:p.Thr97SerfsTer?
NM_003055.2:c.290_318del (SLC18A3)	NP_003046.2:p.Thr97SerfsTer?
NM_020984.3:c.-69+1831_-69+1859del (CHAT)	NP_066264.3:n.-69+1831_-69+1859del
NM_003055.3:c.290_318del (SLC18A3) MANE Select	NP_003046.2:p.Thr97SerfsTer?
NM_020984.4:c.-69+1831_-69+1859del (CHAT)	NP_066264.4:n.-69+1831_-69+1859del