Canonical Allele Identifier: CA557566067
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs183125
gnomAD v2: 5-1414599-T-A
gnomAD v3: 5-1414484-T-A
gnomAD v4: 5-1414484-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414484T>A , CM000667.2:g.1414484T>A GRCh38
NC_000005.9:g.1414599T>A , CM000667.1:g.1414599T>A GRCh37
NC_000005.8:g.1467599T>A NCBI36
NG_015885.1:g.35945A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+207A>T MANE Select ENSP00000270349.9:n.1156+207A>T
ENST00000270349.11:c.1156+207A>T ENSP00000270349.9:n.1156+207A>T
NM_001044.4:c.1156+207A>T NP_001035.1:n.1156+207A>T
NM_001044.5:c.1156+207A>T MANE Select NP_001035.1:n.1156+207A>T