Canonical Allele Identifier: CA3186162
Gene: SLC6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 695829
ClinVar RCV Id: RCV000861772
dbSNP Id: rs28363072
ExAC: 5:1414876 G / A
gnomAD v2: 5-1414876-G-A
gnomAD v3: 5-1414761-G-A
gnomAD v4: 5-1414761-G-A
COSMIC: COSM3611829
MyVariant Identifiers: chr5:g.1414876G>A (hg19) chr5:g.1414761G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414761G>A , CM000667.2:g.1414761G>A GRCh38
NC_000005.9:g.1414876G>A , CM000667.1:g.1414876G>A GRCh37
NC_000005.8:g.1467876G>A NCBI36
NG_015885.1:g.35668C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1086C>T MANE Select ENSP00000270349.9:p.Phe362=
ENST00000270349.11:c.1086C>T ENSP00000270349.9:p.Phe362=
ENST00000511750.1:n.536C>T
NM_001044.4:c.1086C>T NP_001035.1:p.Phe362=
NM_001044.5:c.1086C>T MANE Select NP_001035.1:p.Phe362=
Search 100 bp 5'
Search 100 bp 3'