Canonical Allele Identifier: CA3186204
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1553986657
ExAC: 5:1416233 C / T
gnomAD v2: 5-1416233-C-T
gnomAD v4: 5-1416118-C-T
MyVariant Identifiers: chr5:g.1416233C>T (hg19) chr5:g.1416233_1416236delinsTTTG (hg19) chr5:g.1416118_1416121delinsTTTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1416118C>T , CM000667.2:g.1416118C>T GRCh38
NC_000005.9:g.1416233C>T , CM000667.1:g.1416233C>T GRCh37
NC_000005.8:g.1469233C>T NCBI36
NG_015885.1:g.34311G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1011G>A MANE Select ENSP00000270349.9:p.Lys337=
ENST00000270349.11:c.1011G>A ENSP00000270349.9:p.Lys337=
ENST00000511750.1:n.461G>A
NM_001044.4:c.1011G>A NP_001035.1:p.Lys337=
NM_001044.5:c.1011G>A MANE Select NP_001035.1:p.Lys337=
Search 100 bp 5'
Search 100 bp 3'