Canonical Allele Identifier: CA804833302
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1366595216
gnomAD v3: 5-1427906-T-C
gnomAD v4: 5-1427906-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1427906T>C , CM000667.2:g.1427906T>C GRCh38
NC_000005.9:g.1428021T>C , CM000667.1:g.1428021T>C GRCh37
NC_000005.8:g.1481021T>C NCBI36
NG_015885.1:g.22523A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.653+4558A>G MANE Select ENSP00000270349.9:n.653+4558A>G
ENST00000270349.11:c.653+4558A>G ENSP00000270349.9:n.653+4558A>G
NM_001044.4:c.653+4558A>G NP_001035.1:n.653+4558A>G
NM_001044.5:c.653+4558A>G MANE Select NP_001035.1:n.653+4558A>G