Canonical Allele Identifier: CA379917334
Gene: SLC6A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628061A>C , CM000673.2:g.20628061A>C GRCh38
NC_000011.9:g.20649607A>C , CM000673.1:g.20649607A>C GRCh37
NC_000011.8:g.20606183A>C NCBI36
NG_013086.1:g.33662A>C
NG_013086.2:g.33662A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000525748.6:c.1477A>C MANE Select ENSP00000434364.2:p.Lys493Gln
ENST00000298923.11:c.*774A>C ENSP00000298923.7:n.*774A>C
ENST00000525748.5:c.1477A>C ENSP00000434364.1:p.Lys493Gln
NM_004211.3:c.1477A>C NP_004202.2:p.Lys493Gln
XM_005253225.1:c.775A>C XP_005253282.1:p.Lys259Gln
XM_011520473.1:c.1477A>C XP_011518775.1:p.Lys493Gln
NM_001318369.1:c.775A>C NP_001305298.1:p.Lys259Gln
NM_004211.4:c.1477A>C NP_004202.3:p.Lys493Gln
XM_017018544.2:c.601A>C XP_016874033.1:p.Lys201Gln
XM_017018545.2:c.436A>C XP_016874034.1:p.Lys146Gln
NM_001318369.2:c.775A>C NP_001305298.1:p.Lys259Gln
NM_004211.5:c.1477A>C MANE Select NP_004202.4:p.Lys493Gln