Canonical Allele Identifier: CA359060955
Gene: SLC6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1432632C>A , CM000667.2:g.1432632C>A GRCh38
NC_000005.9:g.1432747C>A , CM000667.1:g.1432747C>A GRCh37
NC_000005.8:g.1485747C>A NCBI36
NG_015885.1:g.17797G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.485G>T MANE Select ENSP00000270349.9:p.Trp162Leu
ENST00000270349.11:c.485G>T ENSP00000270349.9:p.Trp162Leu
NM_001044.4:c.485G>T NP_001035.1:p.Trp162Leu
NM_001044.5:c.485G>T MANE Select NP_001035.1:p.Trp162Leu