Canonical Allele Identifier: CA128555
Gene: SLC6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 29685
ClinVar RCV Id: RCV000022531 RCV000493130
dbSNP Id: rs431905504
gnomAD v2: 5-1411357-C-T
gnomAD v4: 5-1411242-C-T
MyVariant Identifiers: chr5:g.1411357C>T (hg19) chr5:g.1411242C>T (hg38)
PubMed: PMID:22279524
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411242C>T , CM000667.2:g.1411242C>T GRCh38
NC_000005.9:g.1411357C>T , CM000667.1:g.1411357C>T GRCh37
NC_000005.8:g.1464357C>T NCBI36
NG_015885.1:g.39187G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.1269+1G>A MANE Select ENSP00000270349.9:n.1269+1G>A
ENST00000270349.11:c.1269+1G>A ENSP00000270349.9:n.1269+1G>A
NM_001044.4:c.1269+1G>A NP_001035.1:n.1269+1G>A
NM_001044.5:c.1269+1G>A MANE Select NP_001035.1:n.1269+1G>A
Search 100 bp 5'
Search 100 bp 3'