Canonical Allele Identifier: CA1956619729
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20627985G= , CM000673.2:g.20627985G= GRCh38
NC_000011.9:g.20649531G= , CM000673.1:g.20649531G= GRCh37
NC_000011.8:g.20606107G= NCBI36
NG_013086.1:g.33586G=
NG_013086.2:g.33586G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1401G= MANE Select ENSP00000434364.2:p.Trp467=
ENST00000298923.11:c.*698G= ENSP00000298923.7:n.*698G=
ENST00000525748.5:c.1401G= ENSP00000434364.1:p.Trp467=
NM_004211.3:c.1401G= NP_004202.2:p.Trp467=
XM_005253225.1:c.699G= XP_005253282.1:p.Trp233=
XM_011520473.1:c.1401G= XP_011518775.1:p.Trp467=
NM_001318369.1:c.699G= NP_001305298.1:p.Trp233=
NM_004211.4:c.1401G= NP_004202.3:p.Trp467=
XM_017018544.2:c.525G= XP_016874033.1:p.Trp175=
XM_017018545.2:c.360G= XP_016874034.1:p.Trp120=
NM_001318369.2:c.699G= NP_001305298.1:p.Trp233=
NM_004211.5:c.1401G= MANE Select NP_004202.4:p.Trp467=