Canonical Allele Identifier: CA3186100
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs775075843
ExAC: 5:1411337 CG / C
gnomAD v2: 5-1411337-CG-C
gnomAD v4: 5-1411222-CG-C
MyVariant Identifiers: chr5:g.1411338del (hg19) chr5:g.1411223del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411225del , CM000667.2:g.1411225del GRCh38
NC_000005.9:g.1411340del , CM000667.1:g.1411340del GRCh37
NC_000005.8:g.1464340del NCBI36
NG_015885.1:g.39206del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+20del MANE Select ENSP00000270349.9:n.1269+20del
ENST00000270349.11:c.1269+20del ENSP00000270349.9:n.1269+20del
NM_001044.4:c.1269+20del NP_001035.1:n.1269+20del
NM_001044.5:c.1269+20del MANE Select NP_001035.1:n.1269+20del
Search 100 bp 5'
Search 100 bp 3'