Canonical Allele Identifier: CA1072513816
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1733731999
gnomAD v3: 5-1443511-C-A
gnomAD v4: 5-1443511-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1443511C>A , CM000667.2:g.1443511C>A GRCh38
NC_000005.9:g.1443626C>A , CM000667.1:g.1443626C>A GRCh37
NC_000005.8:g.1496626C>A NCBI36
NG_015885.1:g.6918G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-45-269G>T MANE Select ENSP00000270349.9:n.-45-269G>T
ENST00000270349.11:c.-45-269G>T ENSP00000270349.9:n.-45-269G>T
NM_001044.4:c.-45-269G>T NP_001035.1:n.-45-269G>T
NM_001044.5:c.-45-269G>T MANE Select NP_001035.1:n.-45-269G>T