Canonical Allele Identifier: CA804913637
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1257008316
gnomAD v3: 5-1431107-C-A
gnomAD v4: 5-1431107-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1431107C>A , CM000667.2:g.1431107C>A GRCh38
NC_000005.9:g.1431222C>A , CM000667.1:g.1431222C>A GRCh37
NC_000005.8:g.1484222C>A NCBI36
NG_015885.1:g.19322G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.653+1357G>T MANE Select ENSP00000270349.9:n.653+1357G>T
ENST00000270349.11:c.653+1357G>T ENSP00000270349.9:n.653+1357G>T
NM_001044.4:c.653+1357G>T NP_001035.1:n.653+1357G>T
NM_001044.5:c.653+1357G>T MANE Select NP_001035.1:n.653+1357G>T