Canonical Allele Identifier: CA379918608
Gene: SLC6A5 HGNC NCBI

Linked Data

dbSNP Id: rs1353565052

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20638480C>T , CM000673.2:g.20638480C>T GRCh38
NC_000011.9:g.20660026C>T , CM000673.1:g.20660026C>T GRCh37
NC_000011.8:g.20616602C>T NCBI36
NG_013086.1:g.44081C>T
NG_013086.2:g.44081C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1891C>T MANE Select ENSP00000434364.2:p.Leu631Phe
ENST00000298923.11:c.*1188C>T ENSP00000298923.7:n.*1188C>T
ENST00000525748.5:c.1891C>T ENSP00000434364.1:p.Leu631Phe
ENST00000528440.1:n.422C>T
NM_004211.3:c.1891C>T NP_004202.2:p.Leu631Phe
XM_005253225.1:c.1189C>T XP_005253282.1:p.Leu397Phe
XM_011520473.1:c.1891C>T XP_011518775.1:p.Leu631Phe
NM_001318369.1:c.1189C>T NP_001305298.1:p.Leu397Phe
NM_004211.4:c.1891C>T NP_004202.3:p.Leu631Phe
XM_017018544.2:c.1015C>T XP_016874033.1:p.Leu339Phe
XM_017018545.2:c.850C>T XP_016874034.1:p.Leu284Phe
NM_001318369.2:c.1189C>T NP_001305298.1:p.Leu397Phe
NM_004211.5:c.1891C>T MANE Select NP_004202.4:p.Leu631Phe