Canonical Allele Identifier: CA379917285
Gene: SLC6A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628038T>A , CM000673.2:g.20628038T>A GRCh38
NC_000011.9:g.20649584T>A , CM000673.1:g.20649584T>A GRCh37
NC_000011.8:g.20606160T>A NCBI36
NG_013086.1:g.33639T>A
NG_013086.2:g.33639T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1454T>A MANE Select ENSP00000434364.2:p.Leu485Gln
ENST00000298923.11:c.*751T>A ENSP00000298923.7:n.*751T>A
ENST00000525748.5:c.1454T>A ENSP00000434364.1:p.Leu485Gln
NM_004211.3:c.1454T>A NP_004202.2:p.Leu485Gln
XM_005253225.1:c.752T>A XP_005253282.1:p.Leu251Gln
XM_011520473.1:c.1454T>A XP_011518775.1:p.Leu485Gln
NM_001318369.1:c.752T>A NP_001305298.1:p.Leu251Gln
NM_004211.4:c.1454T>A NP_004202.3:p.Leu485Gln
XM_017018544.2:c.578T>A XP_016874033.1:p.Leu193Gln
XM_017018545.2:c.413T>A XP_016874034.1:p.Leu138Gln
NM_001318369.2:c.752T>A NP_001305298.1:p.Leu251Gln
NM_004211.5:c.1454T>A MANE Select NP_004202.4:p.Leu485Gln