Canonical Allele Identifier: CA2574780260
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20617664G>A , CM000673.2:g.20617664G>A GRCh38
NC_000011.9:g.20639210G>A , CM000673.1:g.20639210G>A GRCh37
NC_000011.8:g.20595786G>A NCBI36
NG_013086.1:g.23265G>A
NG_013086.2:g.23265G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000525748.6:c.1128-88G>A MANE Select ENSP00000434364.2:n.1128-88G>A
ENST00000298923.11:c.*425-88G>A ENSP00000298923.7:n.*425-88G>A
ENST00000525748.5:c.1128-88G>A ENSP00000434364.1:n.1128-88G>A
NM_004211.3:c.1128-88G>A NP_004202.2:n.1128-88G>A
XM_005253225.1:c.426-88G>A XP_005253282.1:n.426-88G>A
XM_011520473.1:c.1128-88G>A XP_011518775.1:n.1128-88G>A
NM_001318369.1:c.426-88G>A NP_001305298.1:n.426-88G>A
NM_004211.4:c.1128-88G>A NP_004202.3:n.1128-88G>A
XM_017018544.2:c.252-88G>A XP_016874033.1:n.252-88G>A
XM_017018545.2:c.87-88G>A XP_016874034.1:n.87-88G>A
NM_001318369.2:c.426-88G>A NP_001305298.1:n.426-88G>A
NM_004211.5:c.1128-88G>A MANE Select NP_004202.4:n.1128-88G>A