Canonical Allele Identifier: CA359087357
Gene: SLC6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1422003A>T , CM000667.2:g.1422003A>T GRCh38
NC_000005.9:g.1422118A>T , CM000667.1:g.1422118A>T GRCh37
NC_000005.8:g.1475118A>T NCBI36
NG_015885.1:g.28426T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.665T>A MANE Select ENSP00000270349.9:p.Leu222Gln
ENST00000270349.11:c.665T>A ENSP00000270349.9:p.Leu222Gln
NM_001044.4:c.665T>A NP_001035.1:p.Leu222Gln
NM_001044.5:c.665T>A MANE Select NP_001035.1:p.Leu222Gln