Canonical Allele Identifier: CA2574780355
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628168T>C , CM000673.2:g.20628168T>C GRCh38
NC_000011.9:g.20649714T>C , CM000673.1:g.20649714T>C GRCh37
NC_000011.8:g.20606290T>C NCBI36
NG_013086.1:g.33769T>C
NG_013086.2:g.33769T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1499+85T>C MANE Select ENSP00000434364.2:n.1499+85T>C
ENST00000298923.11:c.*796+85T>C ENSP00000298923.7:n.*796+85T>C
ENST00000525748.5:c.1499+85T>C ENSP00000434364.1:n.1499+85T>C
NM_004211.3:c.1499+85T>C NP_004202.2:n.1499+85T>C
XM_005253225.1:c.797+85T>C XP_005253282.1:n.797+85T>C
XM_011520473.1:c.1499+85T>C XP_011518775.1:n.1499+85T>C
NM_001318369.1:c.797+85T>C NP_001305298.1:n.797+85T>C
NM_004211.4:c.1499+85T>C NP_004202.3:n.1499+85T>C
XM_017018544.2:c.623+85T>C XP_016874033.1:n.623+85T>C
XM_017018545.2:c.458+85T>C XP_016874034.1:n.458+85T>C
NM_001318369.2:c.797+85T>C NP_001305298.1:n.797+85T>C
NM_004211.5:c.1499+85T>C MANE Select NP_004202.4:n.1499+85T>C