Canonical Allele Identifier: CA112954046
Gene: SLC6A3 HGNC NCBI
gnomAD v2:
5:1394522 C / T
gnomAD v3:
5:1394407 C / T
gnomAD v4:
chr5-1394407-C-T
Joint Max Group AF 0.25497588 (SAS)
Genomes Max Group AF 0.24759203 (SAS)
Exomes Max Group AF 0.25466864 (SAS)
ClinVar Allele:
1278306
ClinVar RCV:
RCV001707449
ClinVar Variation:
1288474
dbSNP:
27072
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1394407C>T , CM000667.2:g.1394407C>T GRCh38
NC_000005.9:g.1394522C>T , CM000667.1:g.1394522C>T GRCh37
NC_000005.8:g.1447522C>T NCBI36
NG_015885.1:g.56022G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.*328G>A MANE Select ENSP00000270349.9:n.*328G>A
ENST00000270349.11:c.*328G>A ENSP00000270349.9:n.*328G>A
ENST00000512002.2:n.572G>A
NM_001044.4:c.*328G>A NP_001035.1:n.*328G>A
NM_001044.5:c.*328G>A MANE Select NP_001035.1:n.*328G>A
Search 100 bp 5'
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