Canonical Allele Identifier: CA1956619749
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628028T= , CM000673.2:g.20628028T= GRCh38
NC_000011.9:g.20649574T= , CM000673.1:g.20649574T= GRCh37
NC_000011.8:g.20606150T= NCBI36
NG_013086.1:g.33629T=
NG_013086.2:g.33629T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1444T= MANE Select ENSP00000434364.2:p.Trp482=
ENST00000298923.11:c.*741T= ENSP00000298923.7:n.*741T=
ENST00000525748.5:c.1444T= ENSP00000434364.1:p.Trp482=
NM_004211.3:c.1444T= NP_004202.2:p.Trp482=
XM_005253225.1:c.742T= XP_005253282.1:p.Trp248=
XM_011520473.1:c.1444T= XP_011518775.1:p.Trp482=
NM_001318369.1:c.742T= NP_001305298.1:p.Trp248=
NM_004211.4:c.1444T= NP_004202.3:p.Trp482=
XM_017018544.2:c.568T= XP_016874033.1:p.Trp190=
XM_017018545.2:c.403T= XP_016874034.1:p.Trp135=
NM_001318369.2:c.742T= NP_001305298.1:p.Trp248=
NM_004211.5:c.1444T= MANE Select NP_004202.4:p.Trp482=