Canonical Allele Identifier: CA1072527703
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756231173
gnomAD v3: 5-1414562-G-GCAGCAACTCTCACTGAAGTCGCTC
gnomAD v4: 5-1414562-G-GCAGCAACTCTCACTGAAGTCGCTC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414563_1414586dup , CM000667.2:g.1414563_1414586dup GRCh38
NC_000005.9:g.1414678_1414701dup , CM000667.1:g.1414678_1414701dup GRCh37
NC_000005.8:g.1467678_1467701dup NCBI36
NG_015885.1:g.35843_35866dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+105_1156+128dup MANE Select ENSP00000270349.9:n.1156+105_1156+128dup
ENST00000270349.11:c.1156+105_1156+128dup ENSP00000270349.9:n.1156+105_1156+128dup
NM_001044.4:c.1156+105_1156+128dup NP_001035.1:n.1156+105_1156+128dup
NM_001044.5:c.1156+105_1156+128dup MANE Select NP_001035.1:n.1156+105_1156+128dup
Search 100 bp 5'
Search 100 bp 3'