Canonical Allele Identifier: CA1908793921
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611489C= , CM000672.2:g.49611489C= GRCh38
NC_000010.10:g.50819535C= , CM000672.1:g.50819535C= GRCh37
NC_000010.9:g.50489541C= NCBI36
NG_011797.1:g.7395C=
NG_053144.1:g.6189C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.749C= (SLC18A3) MANE Select ENSP00000363229.3:p.Ala250=
ENST00000339797.5:c.-69+2290C= (CHAT) ENSP00000343486.1:n.-69+2290C=
ENST00000374115.4:c.749C= (SLC18A3) ENSP00000363229.3:p.Ala250=
NM_003055.2:c.749C= (SLC18A3) NP_003046.2:p.Ala250=
NM_020984.3:c.-69+2290C= (CHAT) NP_066264.3:n.-69+2290C=
NM_003055.3:c.749C= (SLC18A3) MANE Select NP_003046.2:p.Ala250=
NM_020984.4:c.-69+2290C= (CHAT) NP_066264.4:n.-69+2290C=
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