Canonical Allele Identifier: CA1908795073
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611947_49611950delinsCCCA , CM000672.2:g.49611947_49611950delinsCCCA GRCh38
NC_000010.10:g.50819993_50819996delinsCCCA , CM000672.1:g.50819993_50819996delinsCCCA GRCh37
NC_000010.9:g.50489999_50490002delinsCCCA NCBI36
NG_011797.1:g.7853_7856delinsCCCA
NG_053144.1:g.6647_6650delinsCCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.1207_1210delinsCCCA (SLC18A3) MANE Select ENSP00000363229.3:p.Pro403=
ENST00000339797.5:c.-69+2748_-69+2751delinsCCCA (CHAT) ENSP00000343486.1:n.-69+2748_-69+2751delinsCCCA
ENST00000374115.4:c.1207_1210delinsCCCA (SLC18A3) ENSP00000363229.3:p.Pro403=
NM_003055.2:c.1207_1210delinsCCCA (SLC18A3) NP_003046.2:p.Pro403=
NM_020984.3:c.-69+2748_-69+2751delinsCCCA (CHAT) NP_066264.3:n.-69+2748_-69+2751delinsCCCA
NM_003055.3:c.1207_1210delinsCCCA (SLC18A3) MANE Select NP_003046.2:p.Pro403=
NM_020984.4:c.-69+2748_-69+2751delinsCCCA (CHAT) NP_066264.4:n.-69+2748_-69+2751delinsCCCA
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