Canonical Allele Identifier: CA112967326
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs535294148

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421921C>T , CM000667.2:g.1421921C>T GRCh38
NC_000005.9:g.1422036C>T , CM000667.1:g.1422036C>T GRCh37
NC_000005.8:g.1475036C>T NCBI36
NG_015885.1:g.28508G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.747G>A MANE Select ENSP00000270349.9:p.Val249=
ENST00000270349.11:c.747G>A ENSP00000270349.9:p.Val249=
NM_001044.4:c.747G>A NP_001035.1:p.Val249=
NM_001044.5:c.747G>A MANE Select NP_001035.1:p.Val249=