Canonical Allele Identifier: CA597487313

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1434293607
• gnomAD v2: 11-20649558-CT-C
• gnomAD v4: 11-20628012-CT-C
• MyVariant Identifiers: chr11:g.20649559del (hg19) ; chr11:g.20628013del (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1429del MANE Select	ENSP00000434364.2:p.Ser477LeufsTer9
ENST00000298923.11:c.*726del	ENSP00000298923.7:n.*726del
ENST00000525748.5:c.1429del	ENSP00000434364.1:p.Ser477LeufsTer9
NM_004211.3:c.1429del	NP_004202.2:p.Ser477LeufsTer9
XM_005253225.1:c.727del	XP_005253282.1:p.Ser243LeufsTer9
XM_011520473.1:c.1429del	XP_011518775.1:p.Ser477LeufsTer9
NM_001318369.1:c.727del	NP_001305298.1:p.Ser243LeufsTer9
NM_004211.4:c.1429del	NP_004202.3:p.Ser477LeufsTer9
XM_017018544.2:c.553del	XP_016874033.1:p.Ser185LeufsTer9
XM_017018545.2:c.388del	XP_016874034.1:p.Ser130LeufsTer9
NM_001318369.2:c.727del	NP_001305298.1:p.Ser243LeufsTer9
NM_004211.5:c.1429del MANE Select	NP_004202.4:p.Ser477LeufsTer9