Canonical Allele Identifier: CA379917235

Gene: SLC6A5

Linked Data

• ClinVar Variation Id: 624830
• ClinVar RCV Id: RCV000852297
• dbSNP Id: rs1590169700
• MyVariant Identifiers: chr11:g.20649559T>C (hg19) ; chr11:g.20628013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628013T>C , CM000673.2:g.20628013T>C	GRCh38
NC_000011.9:g.20649559T>C , CM000673.1:g.20649559T>C	GRCh37
NC_000011.8:g.20606135T>C	NCBI36
NG_013086.1:g.33614T>C
NG_013086.2:g.33614T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1429T>C MANE Select	ENSP00000434364.2:p.Ser477Pro
ENST00000298923.11:c.*726T>C	ENSP00000298923.7:n.*726T>C
ENST00000525748.5:c.1429T>C	ENSP00000434364.1:p.Ser477Pro
NM_004211.3:c.1429T>C	NP_004202.2:p.Ser477Pro
XM_005253225.1:c.727T>C	XP_005253282.1:p.Ser243Pro
XM_011520473.1:c.1429T>C	XP_011518775.1:p.Ser477Pro
NM_001318369.1:c.727T>C	NP_001305298.1:p.Ser243Pro
NM_004211.4:c.1429T>C	NP_004202.3:p.Ser477Pro
XM_017018544.2:c.553T>C	XP_016874033.1:p.Ser185Pro
XM_017018545.2:c.388T>C	XP_016874034.1:p.Ser130Pro
NM_001318369.2:c.727T>C	NP_001305298.1:p.Ser243Pro
NM_004211.5:c.1429T>C MANE Select	NP_004202.4:p.Ser477Pro