Canonical Allele Identifier: CA3186374
Gene: SLC6A3 HGNC NCBI
COSMIC:
COSN19644920 (not active)
COSN26727872 (not active)
MyVariant.info:
GRCh38 chr5:g.1432710G>T
GRCh37 chr5:g.1432825G>T
gnomAD v2:
5:1432825 G / T
gnomAD v3:
5:1432710 G / T
gnomAD v4:
chr5-1432710-G-T
Joint Max Group AF 0.52320215 (EAS)
Genomes Max Group AF 0.50841725 (EAS)
Exomes Max Group AF 0.5233514 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1432710G>T , CM000667.2:g.1432710G>T GRCh38
NC_000005.9:g.1432825G>T , CM000667.1:g.1432825G>T GRCh37
NC_000005.8:g.1485825G>T NCBI36
NG_015885.1:g.17719C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.419-12C>A MANE Select ENSP00000270349.9:n.419-12C>A
ENST00000270349.11:c.419-12C>A ENSP00000270349.9:n.419-12C>A
NM_001044.4:c.419-12C>A NP_001035.1:n.419-12C>A
NM_001044.5:c.419-12C>A MANE Select NP_001035.1:n.419-12C>A
Search 100 bp 5'
Search 100 bp 3'