Canonical Allele Identifier: CA1908794119
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611552G= , CM000672.2:g.49611552G= GRCh38
NC_000010.10:g.50819598G= , CM000672.1:g.50819598G= GRCh37
NC_000010.9:g.50489604G= NCBI36
NG_011797.1:g.7458G=
NG_053144.1:g.6252G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.812G= (SLC18A3) MANE Select ENSP00000363229.3:p.Arg271=
ENST00000339797.5:c.-69+2353G= (CHAT) ENSP00000343486.1:n.-69+2353G=
ENST00000374115.4:c.812G= (SLC18A3) ENSP00000363229.3:p.Arg271=
NM_003055.2:c.812G= (SLC18A3) NP_003046.2:p.Arg271=
NM_020984.3:c.-69+2353G= (CHAT) NP_066264.3:n.-69+2353G=
NM_003055.3:c.812G= (SLC18A3) MANE Select NP_003046.2:p.Arg271=
NM_020984.4:c.-69+2353G= (CHAT) NP_066264.4:n.-69+2353G=
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