Canonical Allele Identifier: CA2549650053
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611751del , CM000672.2:g.49611751del GRCh38
NC_000010.10:g.50819797del , CM000672.1:g.50819797del GRCh37
NC_000010.9:g.50489803del NCBI36
NG_011797.1:g.7657del
NG_053144.1:g.6451del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.1011del (SLC18A3) MANE Select ENSP00000363229.3:p.His338MetfsTer29
ENST00000339797.5:c.-69+2552del (CHAT) ENSP00000343486.1:n.-69+2552del
ENST00000374115.4:c.1011del (SLC18A3) ENSP00000363229.3:p.His338MetfsTer29
NM_003055.2:c.1011del (SLC18A3) NP_003046.2:p.His338MetfsTer29
NM_020984.3:c.-69+2552del (CHAT) NP_066264.3:n.-69+2552del
NM_003055.3:c.1011del (SLC18A3) MANE Select NP_003046.2:p.His338MetfsTer29
NM_020984.4:c.-69+2552del (CHAT) NP_066264.4:n.-69+2552del
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