Canonical Allele Identifier: CA804997746
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1215207161
gnomAD v3: 5-1444287-AC-A
gnomAD v4: 5-1444287-AC-A
MyVariant Identifiers: chr5:g.1444403del (hg19) chr5:g.1444288del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1444289del , CM000667.2:g.1444289del GRCh38
NC_000005.9:g.1444404del , CM000667.1:g.1444404del GRCh37
NC_000005.8:g.1497404del NCBI36
NG_015885.1:g.6141del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-45-1046del MANE Select ENSP00000270349.9:n.-45-1046del
ENST00000270349.11:c.-45-1046del ENSP00000270349.9:n.-45-1046del
NM_001044.4:c.-45-1046del NP_001035.1:n.-45-1046del
NM_001044.5:c.-45-1046del MANE Select NP_001035.1:n.-45-1046del
Search 100 bp 5'
Search 100 bp 3'