Canonical Allele Identifier: CA443020701
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1201734657
gnomAD v2: 5-1414552-T-TG
gnomAD v3: 5-1414437-T-TG
gnomAD v4: 5-1414437-T-TG

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414443dup , CM000667.2:g.1414443dup GRCh38
NC_000005.9:g.1414558dup , CM000667.1:g.1414558dup GRCh37
NC_000005.8:g.1467558dup NCBI36
NG_015885.1:g.35991dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+253dup MANE Select ENSP00000270349.9:n.1156+253dup
ENST00000270349.11:c.1156+253dup ENSP00000270349.9:n.1156+253dup
NM_001044.4:c.1156+253dup NP_001035.1:n.1156+253dup
NM_001044.5:c.1156+253dup MANE Select NP_001035.1:n.1156+253dup