Canonical Allele Identifier: CA443021006
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1400863341
gnomAD v3: 5-1416115-G-A
gnomAD v4: 5-1416115-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1416115G>A , CM000667.2:g.1416115G>A GRCh38
NC_000005.9:g.1416230G>A , CM000667.1:g.1416230G>A GRCh37
NC_000005.8:g.1469230G>A NCBI36
NG_015885.1:g.34314C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.1014C>T MANE Select ENSP00000270349.9:p.Phe338=
ENST00000270349.11:c.1014C>T ENSP00000270349.9:p.Phe338=
ENST00000511750.1:n.464C>T
NM_001044.4:c.1014C>T NP_001035.1:p.Phe338=
NM_001044.5:c.1014C>T MANE Select NP_001035.1:p.Phe338=