Canonical Allele Identifier: CA359087350
Gene: SLC6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1422000T>A , CM000667.2:g.1422000T>A GRCh38
NC_000005.9:g.1422115T>A , CM000667.1:g.1422115T>A GRCh37
NC_000005.8:g.1475115T>A NCBI36
NG_015885.1:g.28429A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.668A>T MANE Select ENSP00000270349.9:p.His223Leu
ENST00000270349.11:c.668A>T ENSP00000270349.9:p.His223Leu
NM_001044.4:c.668A>T NP_001035.1:p.His223Leu
NM_001044.5:c.668A>T MANE Select NP_001035.1:p.His223Leu