Canonical Allele Identifier: CA473404265

Gene: SLC6A5

Linked Data

• ClinVar Variation Id: 1976453
• ClinVar RCV Id: RCV002760886
• gnomAD v4: 11-20628057-C-T
• MyVariant Identifiers: chr11:g.20649603C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628057C>T , CM000673.2:g.20628057C>T	GRCh38
NC_000011.9:g.20649603C>T , CM000673.1:g.20649603C>T	GRCh37
NC_000011.8:g.20606179C>T	NCBI36
NG_013086.1:g.33658C>T
NG_013086.2:g.33658C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525748.6:c.1473C>T MANE Select	ENSP00000434364.2:p.Tyr491=
ENST00000298923.11:c.*770C>T	ENSP00000298923.7:n.*770C>T
ENST00000525748.5:c.1473C>T	ENSP00000434364.1:p.Tyr491=
NM_004211.3:c.1473C>T	NP_004202.2:p.Tyr491=
XM_005253225.1:c.771C>T	XP_005253282.1:p.Tyr257=
XM_011520473.1:c.1473C>T	XP_011518775.1:p.Tyr491=
NM_001318369.1:c.771C>T	NP_001305298.1:p.Tyr257=
NM_004211.4:c.1473C>T	NP_004202.3:p.Tyr491=
XM_017018544.2:c.597C>T	XP_016874033.1:p.Tyr199=
XM_017018545.2:c.432C>T	XP_016874034.1:p.Tyr144=
NM_001318369.2:c.771C>T	NP_001305298.1:p.Tyr257=
NM_004211.5:c.1473C>T MANE Select	NP_004202.4:p.Tyr491=