Canonical Allele Identifier: CA340453
Gene: SLC6A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 5763
ClinVar RCV Id: RCV000006119
dbSNP Id: rs121908494

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20628056A>G , CM000673.2:g.20628056A>G GRCh38
NC_000011.9:g.20649602A>G , CM000673.1:g.20649602A>G GRCh37
NC_000011.8:g.20606178A>G NCBI36
NG_013086.1:g.33657A>G
NG_013086.2:g.33657A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525748.6:c.1472A>G MANE Select ENSP00000434364.2:p.Tyr491Cys
ENST00000298923.11:c.*769A>G ENSP00000298923.7:n.*769A>G
ENST00000525748.5:c.1472A>G ENSP00000434364.1:p.Tyr491Cys
NM_004211.3:c.1472A>G NP_004202.2:p.Tyr491Cys
XM_005253225.1:c.770A>G XP_005253282.1:p.Tyr257Cys
XM_011520473.1:c.1472A>G XP_011518775.1:p.Tyr491Cys
NM_001318369.1:c.770A>G NP_001305298.1:p.Tyr257Cys
NM_004211.4:c.1472A>G NP_004202.3:p.Tyr491Cys
XM_017018544.2:c.596A>G XP_016874033.1:p.Tyr199Cys
XM_017018545.2:c.431A>G XP_016874034.1:p.Tyr144Cys
NM_001318369.2:c.770A>G NP_001305298.1:p.Tyr257Cys
NM_004211.5:c.1472A>G MANE Select NP_004202.4:p.Tyr491Cys