Canonical Allele Identifier: CA1072521919
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560912748
gnomAD v3: 5-1414386-A-AAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAG
gnomAD v4: 5-1414386-A-AAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414405_1414443dup , CM000667.2:g.1414405_1414443dup GRCh38
NC_000005.9:g.1414520_1414558dup , CM000667.1:g.1414520_1414558dup GRCh37
NC_000005.8:g.1467520_1467558dup NCBI36
NG_015885.1:g.36004_36042dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+266_1156+304dup MANE Select ENSP00000270349.9:n.1156+266_1156+304dup
ENST00000270349.11:c.1156+266_1156+304dup ENSP00000270349.9:n.1156+266_1156+304dup
NM_001044.4:c.1156+266_1156+304dup NP_001035.1:n.1156+266_1156+304dup
NM_001044.5:c.1156+266_1156+304dup MANE Select NP_001035.1:n.1156+266_1156+304dup
Search 100 bp 5'
Search 100 bp 3'