Canonical Allele Identifier: CA112963075
Gene: SLC6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1221601
ClinVar RCV Id: RCV001598754
dbSNP Id: rs113948573
gnomAD v2: 5-1414501-A-G
gnomAD v3: 5-1414386-A-G
gnomAD v4: 5-1414386-A-G
MyVariant Identifiers: chr5:g.1414501A>G (hg19) chr5:g.1414501_1414540delinsGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAG (hg19) chr5:g.1414386A>G (hg38) chr5:g.1414386_1414425delinsGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414386A>G , CM000667.2:g.1414386A>G GRCh38
NC_000005.9:g.1414501A>G , CM000667.1:g.1414501A>G GRCh37
NC_000005.8:g.1467501A>G NCBI36
NG_015885.1:g.36043T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+305T>C MANE Select ENSP00000270349.9:n.1156+305T>C
ENST00000270349.11:c.1156+305T>C ENSP00000270349.9:n.1156+305T>C
NM_001044.4:c.1156+305T>C NP_001035.1:n.1156+305T>C
NM_001044.5:c.1156+305T>C MANE Select NP_001035.1:n.1156+305T>C
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