Canonical Allele Identifier: CA1072521898
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756204420
gnomAD v3: 5-1414386-A-AG
gnomAD v4: 5-1414386-A-AG

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414386_1414387insG , CM000667.2:g.1414386_1414387insG GRCh38
NC_000005.9:g.1414501_1414502insG , CM000667.1:g.1414501_1414502insG GRCh37
NC_000005.8:g.1467501_1467502insG NCBI36
NG_015885.1:g.36042_36043insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+304_1156+305insC MANE Select ENSP00000270349.9:n.1156+304_1156+305insC
ENST00000270349.11:c.1156+304_1156+305insC ENSP00000270349.9:n.1156+304_1156+305insC
NM_001044.4:c.1156+304_1156+305insC NP_001035.1:n.1156+304_1156+305insC
NM_001044.5:c.1156+304_1156+305insC MANE Select NP_001035.1:n.1156+304_1156+305insC