Canonical Allele Identifier: CA5921453

Gene: SLC6A5

Linked Data

• ClinVar Variation Id: 624831
• ClinVar RCV Id: RCV000852298 ; RCV003768301 ; RCV003992385
• dbSNP Id: rs767695215
• ExAC: 11:20649559 TC / T
• gnomAD v2: 11-20649559-TC-T
• gnomAD v3: 11-20628013-TC-T
• gnomAD v4: 11-20628013-TC-T
• MyVariant Identifiers: chr11:g.20649560del (hg19) ; chr11:g.20628014del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628014del , CM000673.2:g.20628014del	GRCh38
NC_000011.9:g.20649560del , CM000673.1:g.20649560del	GRCh37
NC_000011.8:g.20606136del	NCBI36
NG_013086.1:g.33615del
NG_013086.2:g.33615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1430del MANE Select	ENSP00000434364.2:p.Ser477PhefsTer9
ENST00000298923.11:c.*727del	ENSP00000298923.7:n.*727del
ENST00000525748.5:c.1430del	ENSP00000434364.1:p.Ser477PhefsTer9
NM_004211.3:c.1430del	NP_004202.2:p.Ser477PhefsTer9
XM_005253225.1:c.728del	XP_005253282.1:p.Ser243PhefsTer9
XM_011520473.1:c.1430del	XP_011518775.1:p.Ser477PhefsTer9
NM_001318369.1:c.728del	NP_001305298.1:p.Ser243PhefsTer9
NM_004211.4:c.1430del	NP_004202.3:p.Ser477PhefsTer9
XM_017018544.2:c.554del	XP_016874033.1:p.Ser185PhefsTer9
XM_017018545.2:c.389del	XP_016874034.1:p.Ser130PhefsTer9
NM_001318369.2:c.728del	NP_001305298.1:p.Ser243PhefsTer9
NM_004211.5:c.1430del MANE Select	NP_004202.4:p.Ser477PhefsTer9