Canonical Allele Identifier: CA1956619743
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628013T= , CM000673.2:g.20628013T= GRCh38
NC_000011.9:g.20649559T= , CM000673.1:g.20649559T= GRCh37
NC_000011.8:g.20606135T= NCBI36
NG_013086.1:g.33614T=
NG_013086.2:g.33614T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1429T= MANE Select ENSP00000434364.2:p.Ser477=
ENST00000298923.11:c.*726T= ENSP00000298923.7:n.*726T=
ENST00000525748.5:c.1429T= ENSP00000434364.1:p.Ser477=
NM_004211.3:c.1429T= NP_004202.2:p.Ser477=
XM_005253225.1:c.727T= XP_005253282.1:p.Ser243=
XM_011520473.1:c.1429T= XP_011518775.1:p.Ser477=
NM_001318369.1:c.727T= NP_001305298.1:p.Ser243=
NM_004211.4:c.1429T= NP_004202.3:p.Ser477=
XM_017018544.2:c.553T= XP_016874033.1:p.Ser185=
XM_017018545.2:c.388T= XP_016874034.1:p.Ser130=
NM_001318369.2:c.727T= NP_001305298.1:p.Ser243=
NM_004211.5:c.1429T= MANE Select NP_004202.4:p.Ser477=