Canonical Allele Identifier: CA557552532
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1439537884
gnomAD v2: 5-1431107-C-T
gnomAD v3: 5-1430992-C-T
gnomAD v4: 5-1430992-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1430992C>T , CM000667.2:g.1430992C>T GRCh38
NC_000005.9:g.1431107C>T , CM000667.1:g.1431107C>T GRCh37
NC_000005.8:g.1484107C>T NCBI36
NG_015885.1:g.19437G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.653+1472G>A MANE Select ENSP00000270349.9:n.653+1472G>A
ENST00000270349.11:c.653+1472G>A ENSP00000270349.9:n.653+1472G>A
NM_001044.4:c.653+1472G>A NP_001035.1:n.653+1472G>A
NM_001044.5:c.653+1472G>A MANE Select NP_001035.1:n.653+1472G>A