Canonical Allele Identifier: CA359084220
Gene: SLC6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1416186C>G , CM000667.2:g.1416186C>G GRCh38
NC_000005.9:g.1416301C>G , CM000667.1:g.1416301C>G GRCh37
NC_000005.8:g.1469301C>G NCBI36
NG_015885.1:g.34243G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.943G>C MANE Select ENSP00000270349.9:p.Ala315Pro
ENST00000270349.11:c.943G>C ENSP00000270349.9:p.Ala315Pro
ENST00000511750.1:n.393G>C
NM_001044.4:c.943G>C NP_001035.1:p.Ala315Pro
NM_001044.5:c.943G>C MANE Select NP_001035.1:p.Ala315Pro