Canonical Allele Identifier: CA1956619753
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628036C= , CM000673.2:g.20628036C= GRCh38
NC_000011.9:g.20649582C= , CM000673.1:g.20649582C= GRCh37
NC_000011.8:g.20606158C= NCBI36
NG_013086.1:g.33637C=
NG_013086.2:g.33637C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1452C= MANE Select ENSP00000434364.2:p.Gly484=
ENST00000298923.11:c.*749C= ENSP00000298923.7:n.*749C=
ENST00000525748.5:c.1452C= ENSP00000434364.1:p.Gly484=
NM_004211.3:c.1452C= NP_004202.2:p.Gly484=
XM_005253225.1:c.750C= XP_005253282.1:p.Gly250=
XM_011520473.1:c.1452C= XP_011518775.1:p.Gly484=
NM_001318369.1:c.750C= NP_001305298.1:p.Gly250=
NM_004211.4:c.1452C= NP_004202.3:p.Gly484=
XM_017018544.2:c.576C= XP_016874033.1:p.Gly192=
XM_017018545.2:c.411C= XP_016874034.1:p.Gly137=
NM_001318369.2:c.750C= NP_001305298.1:p.Gly250=
NM_004211.5:c.1452C= MANE Select NP_004202.4:p.Gly484=