Canonical Allele Identifier: CA379911919
Gene: SLC6A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20601430G>T , CM000673.2:g.20601430G>T GRCh38
NC_000011.9:g.20622976G>T , CM000673.1:g.20622976G>T GRCh37
NC_000011.8:g.20579552G>T NCBI36
NG_013086.1:g.7031G>T
NG_013086.2:g.7031G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000525748.6:c.305G>T MANE Select ENSP00000434364.2:p.Gly102Val
ENST00000298923.11:c.305G>T ENSP00000298923.7:p.Gly102Val
ENST00000525748.5:c.305G>T ENSP00000434364.1:p.Gly102Val
NM_004211.3:c.305G>T NP_004202.2:p.Gly102Val
XM_005253225.1:c.-259G>T XP_005253282.1:n.-259G>T
XM_011520473.1:c.305G>T XP_011518775.1:p.Gly102Val
NM_001318369.1:c.-259G>T NP_001305298.1:n.-259G>T
NM_004211.4:c.305G>T NP_004202.3:p.Gly102Val
XM_017018545.2:c.-57+1755G>T XP_016874034.1:n.-57+1755G>T
NM_001318369.2:c.-259G>T NP_001305298.1:n.-259G>T
NM_004211.5:c.305G>T MANE Select NP_004202.4:p.Gly102Val