Canonical Allele Identifier: CA376721492
Gene: SLC18A3 HGNC NCBI
CHAT HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.50819756G>C (hg19) chr10:g.49611710G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49611710G>C , CM000672.2:g.49611710G>C GRCh38
NC_000010.10:g.50819756G>C , CM000672.1:g.50819756G>C GRCh37
NC_000010.9:g.50489762G>C NCBI36
NG_011797.1:g.7616G>C
NG_053144.1:g.6410G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374115.5:c.970G>C (SLC18A3) MANE Select ENSP00000363229.3:p.Glu324Gln
ENST00000339797.5:c.-69+2511G>C (CHAT) ENSP00000343486.1:n.-69+2511G>C
ENST00000374115.4:c.970G>C (SLC18A3) ENSP00000363229.3:p.Glu324Gln
NM_003055.2:c.970G>C (SLC18A3) NP_003046.2:p.Glu324Gln
NM_020984.3:c.-69+2511G>C (CHAT) NP_066264.3:n.-69+2511G>C
NM_003055.3:c.970G>C (SLC18A3) MANE Select NP_003046.2:p.Glu324Gln
NM_020984.4:c.-69+2511G>C (CHAT) NP_066264.4:n.-69+2511G>C
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