Canonical Allele Identifier: CA112968528
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs961913156
gnomAD v2: 5-1423796-CT-C
gnomAD v3: 5-1423681-CT-C
gnomAD v4: 5-1423681-CT-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423682del , CM000667.2:g.1423682del GRCh38
NC_000005.9:g.1423797del , CM000667.1:g.1423797del GRCh37
NC_000005.8:g.1476797del NCBI36
NG_015885.1:g.26747del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.654-1668del MANE Select ENSP00000270349.9:n.654-1668del
ENST00000270349.11:c.654-1668del ENSP00000270349.9:n.654-1668del
NM_001044.4:c.654-1668del NP_001035.1:n.654-1668del
NM_001044.5:c.654-1668del MANE Select NP_001035.1:n.654-1668del