Canonical Allele Identifier: CA379917240

Gene: SLC6A5

Linked Data

• MyVariant Identifiers: chr11:g.20649562T>A (hg19) ; chr11:g.20628016T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628016T>A , CM000673.2:g.20628016T>A	GRCh38
NC_000011.9:g.20649562T>A , CM000673.1:g.20649562T>A	GRCh37
NC_000011.8:g.20606138T>A	NCBI36
NG_013086.1:g.33617T>A
NG_013086.2:g.33617T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1432T>A MANE Select	ENSP00000434364.2:p.Leu478Ile
ENST00000298923.11:c.*729T>A	ENSP00000298923.7:n.*729T>A
ENST00000525748.5:c.1432T>A	ENSP00000434364.1:p.Leu478Ile
NM_004211.3:c.1432T>A	NP_004202.2:p.Leu478Ile
XM_005253225.1:c.730T>A	XP_005253282.1:p.Leu244Ile
XM_011520473.1:c.1432T>A	XP_011518775.1:p.Leu478Ile
NM_001318369.1:c.730T>A	NP_001305298.1:p.Leu244Ile
NM_004211.4:c.1432T>A	NP_004202.3:p.Leu478Ile
XM_017018544.2:c.556T>A	XP_016874033.1:p.Leu186Ile
XM_017018545.2:c.391T>A	XP_016874034.1:p.Leu131Ile
NM_001318369.2:c.730T>A	NP_001305298.1:p.Leu244Ile
NM_004211.5:c.1432T>A MANE Select	NP_004202.4:p.Leu478Ile