Canonical Allele Identifier: CA1908792131
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49610793C= , CM000672.2:g.49610793C= GRCh38
NC_000010.10:g.50818839C= , CM000672.1:g.50818839C= GRCh37
NC_000010.9:g.50488845C= NCBI36
NG_011797.1:g.6699C=
NG_053144.1:g.5493C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.53C= (SLC18A3) MANE Select ENSP00000363229.3:p.Ser18=
ENST00000339797.5:c.-69+1594C= (CHAT) ENSP00000343486.1:n.-69+1594C=
ENST00000374115.4:c.53C= (SLC18A3) ENSP00000363229.3:p.Ser18=
NM_003055.2:c.53C= (SLC18A3) NP_003046.2:p.Ser18=
NM_020984.3:c.-69+1594C= (CHAT) NP_066264.3:n.-69+1594C=
NM_003055.3:c.53C= (SLC18A3) MANE Select NP_003046.2:p.Ser18=
NM_020984.4:c.-69+1594C= (CHAT) NP_066264.4:n.-69+1594C=
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