Canonical Allele Identifier: CA12094171
Gene: SLC6A3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1404433C>T
GRCh37 chr5:g.1404548C>T
gnomAD v2:
5:1404548 C / T
gnomAD v3:
5:1404433 C / T
gnomAD v4:
chr5-1404433-C-T
Joint Max Group AF 0.15034736 (AFR)
Genomes Max Group AF 0.15034736 (AFR)
dbSNP:
6869645
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1404433C>T , CM000667.2:g.1404433C>T GRCh38
NC_000005.9:g.1404548C>T , CM000667.1:g.1404548C>T GRCh37
NC_000005.8:g.1457548C>T NCBI36
NG_015885.1:g.45996G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1600-1344G>A MANE Select ENSP00000270349.9:n.1600-1344G>A
ENST00000270349.11:c.1600-1344G>A ENSP00000270349.9:n.1600-1344G>A
NM_001044.4:c.1600-1344G>A NP_001035.1:n.1600-1344G>A
NM_001044.5:c.1600-1344G>A MANE Select NP_001035.1:n.1600-1344G>A
Search 100 bp 5'
Search 100 bp 3'