Canonical Allele Identifier: CA1522637733
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756282622
gnomAD v4: 5-1416047-A-AC

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1416049dup , CM000667.2:g.1416049dup GRCh38
NC_000005.9:g.1416164dup , CM000667.1:g.1416164dup GRCh37
NC_000005.8:g.1469164dup NCBI36
NG_015885.1:g.34381dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1031+50dup MANE Select ENSP00000270349.9:n.1031+50dup
ENST00000270349.11:c.1031+50dup ENSP00000270349.9:n.1031+50dup
ENST00000511750.1:n.481+50dup
NM_001044.4:c.1031+50dup NP_001035.1:n.1031+50dup
NM_001044.5:c.1031+50dup MANE Select NP_001035.1:n.1031+50dup