Canonical Allele Identifier: CA359060845
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1302978142
gnomAD v2: 5-1432728-G-T
gnomAD v4: 5-1432613-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1432613G>T , CM000667.2:g.1432613G>T GRCh38
NC_000005.9:g.1432728G>T , CM000667.1:g.1432728G>T GRCh37
NC_000005.8:g.1485728G>T NCBI36
NG_015885.1:g.17816C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.504C>A MANE Select ENSP00000270349.9:p.Phe168Leu
ENST00000270349.11:c.504C>A ENSP00000270349.9:p.Phe168Leu
NM_001044.4:c.504C>A NP_001035.1:p.Phe168Leu
NM_001044.5:c.504C>A MANE Select NP_001035.1:p.Phe168Leu