Canonical Allele Identifier: CA359060933
Gene: SLC6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1432627G>T , CM000667.2:g.1432627G>T GRCh38
NC_000005.9:g.1432742G>T , CM000667.1:g.1432742G>T GRCh37
NC_000005.8:g.1485742G>T NCBI36
NG_015885.1:g.17802C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.490C>A MANE Select ENSP00000270349.9:p.Leu164Met
ENST00000270349.11:c.490C>A ENSP00000270349.9:p.Leu164Met
NM_001044.4:c.490C>A NP_001035.1:p.Leu164Met
NM_001044.5:c.490C>A MANE Select NP_001035.1:p.Leu164Met