Canonical Allele Identifier: CA3186489
Gene: SLC6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 538067
ClinVar RCV Id: RCV000647220 RCV000765818
dbSNP Id: rs201800694
ExAC: 5:1443243 C / T
gnomAD v2: 5-1443243-C-T
gnomAD v3: 5-1443128-C-T
gnomAD v4: 5-1443128-C-T
COSMIC: COSM1165947
MyVariant Identifiers: chr5:g.1443243C>T (hg19) chr5:g.1443128C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1443128C>T , CM000667.2:g.1443128C>T GRCh38
NC_000005.9:g.1443243C>T , CM000667.1:g.1443243C>T GRCh37
NC_000005.8:g.1496243C>T NCBI36
NG_015885.1:g.7301G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.70G>A MANE Select ENSP00000270349.9:p.Val24Met
ENST00000270349.11:c.70G>A ENSP00000270349.9:p.Val24Met
NM_001044.4:c.70G>A NP_001035.1:p.Val24Met
NM_001044.5:c.70G>A MANE Select NP_001035.1:p.Val24Met
Search 100 bp 5'
Search 100 bp 3'