Canonical Allele Identifier: CA359083875
Gene: SLC6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1416122T>G , CM000667.2:g.1416122T>G GRCh38
NC_000005.9:g.1416237T>G , CM000667.1:g.1416237T>G GRCh37
NC_000005.8:g.1469237T>G NCBI36
NG_015885.1:g.34307A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1007A>C MANE Select ENSP00000270349.9:p.Asn336Thr
ENST00000270349.11:c.1007A>C ENSP00000270349.9:p.Asn336Thr
ENST00000511750.1:n.457A>C
NM_001044.4:c.1007A>C NP_001035.1:p.Asn336Thr
NM_001044.5:c.1007A>C MANE Select NP_001035.1:p.Asn336Thr