Canonical Allele Identifier: CA557555751
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1255152401
gnomAD v2: 5-1444655-C-G
gnomAD v3: 5-1444540-C-G
gnomAD v4: 5-1444540-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1444540C>G , CM000667.2:g.1444540C>G GRCh38
NC_000005.9:g.1444655C>G , CM000667.1:g.1444655C>G GRCh37
NC_000005.8:g.1497655C>G NCBI36
NG_015885.1:g.5889G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-46+808G>C MANE Select ENSP00000270349.9:n.-46+808G>C
ENST00000270349.11:c.-46+808G>C ENSP00000270349.9:n.-46+808G>C
NM_001044.4:c.-46+808G>C NP_001035.1:n.-46+808G>C
NM_001044.5:c.-46+808G>C MANE Select NP_001035.1:n.-46+808G>C