Canonical Allele Identifier: CA359087180
Gene: SLC6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421917G>T , CM000667.2:g.1421917G>T GRCh38
NC_000005.9:g.1422032G>T , CM000667.1:g.1422032G>T GRCh37
NC_000005.8:g.1475032G>T NCBI36
NG_015885.1:g.28512C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.751C>A MANE Select ENSP00000270349.9:p.Leu251Ile
ENST00000270349.11:c.751C>A ENSP00000270349.9:p.Leu251Ile
NM_001044.4:c.751C>A NP_001035.1:p.Leu251Ile
NM_001044.5:c.751C>A MANE Select NP_001035.1:p.Leu251Ile