Canonical Allele Identifier: CA359083818
Gene: SLC6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1416110T>A , CM000667.2:g.1416110T>A GRCh38
NC_000005.9:g.1416225T>A , CM000667.1:g.1416225T>A GRCh37
NC_000005.8:g.1469225T>A NCBI36
NG_015885.1:g.34319A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1019A>T MANE Select ENSP00000270349.9:p.Asn340Ile
ENST00000270349.11:c.1019A>T ENSP00000270349.9:p.Asn340Ile
ENST00000511750.1:n.469A>T
NM_001044.4:c.1019A>T NP_001035.1:p.Asn340Ile
NM_001044.5:c.1019A>T MANE Select NP_001035.1:p.Asn340Ile