Canonical Allele Identifier: CA12044660
Gene: SLC6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1194644
ClinVar RCV Id: RCV001557456
dbSNP Id: rs141592200
gnomAD v2: 5-1414530-G-T
gnomAD v3: 5-1414415-G-T
gnomAD v4: 5-1414415-G-T
MyVariant Identifiers: chr5:g.1414530G>T (hg19) chr5:g.1414530_1414606delinsTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT (hg19) chr5:g.1414415G>T (hg38) chr5:g.1414415_1414491delinsTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414415G>T , CM000667.2:g.1414415G>T GRCh38
NC_000005.9:g.1414530G>T , CM000667.1:g.1414530G>T GRCh37
NC_000005.8:g.1467530G>T NCBI36
NG_015885.1:g.36014C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+276C>A MANE Select ENSP00000270349.9:n.1156+276C>A
ENST00000270349.11:c.1156+276C>A ENSP00000270349.9:n.1156+276C>A
NM_001044.4:c.1156+276C>A NP_001035.1:n.1156+276C>A
NM_001044.5:c.1156+276C>A MANE Select NP_001035.1:n.1156+276C>A
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