Canonical Allele Identifier: CA112970337
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs985064588
gnomAD v2: 5-1443705-C-T
gnomAD v3: 5-1443590-C-T
gnomAD v4: 5-1443590-C-T
MyVariant Identifiers: chr5:g.1443705C>T (hg19) chr5:g.1443590C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1443590C>T , CM000667.2:g.1443590C>T GRCh38
NC_000005.9:g.1443705C>T , CM000667.1:g.1443705C>T GRCh37
NC_000005.8:g.1496705C>T NCBI36
NG_015885.1:g.6839G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-45-348G>A MANE Select ENSP00000270349.9:n.-45-348G>A
ENST00000270349.11:c.-45-348G>A ENSP00000270349.9:n.-45-348G>A
NM_001044.4:c.-45-348G>A NP_001035.1:n.-45-348G>A
NM_001044.5:c.-45-348G>A MANE Select NP_001035.1:n.-45-348G>A
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