Canonical Allele Identifier: CA379917287

Gene: SLC6A5

Linked Data

• MyVariant Identifiers: chr11:g.20649584T>G (hg19) ; chr11:g.20628038T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628038T>G , CM000673.2:g.20628038T>G	GRCh38
NC_000011.9:g.20649584T>G , CM000673.1:g.20649584T>G	GRCh37
NC_000011.8:g.20606160T>G	NCBI36
NG_013086.1:g.33639T>G
NG_013086.2:g.33639T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1454T>G MANE Select	ENSP00000434364.2:p.Leu485Arg
ENST00000298923.11:c.*751T>G	ENSP00000298923.7:n.*751T>G
ENST00000525748.5:c.1454T>G	ENSP00000434364.1:p.Leu485Arg
NM_004211.3:c.1454T>G	NP_004202.2:p.Leu485Arg
XM_005253225.1:c.752T>G	XP_005253282.1:p.Leu251Arg
XM_011520473.1:c.1454T>G	XP_011518775.1:p.Leu485Arg
NM_001318369.1:c.752T>G	NP_001305298.1:p.Leu251Arg
NM_004211.4:c.1454T>G	NP_004202.3:p.Leu485Arg
XM_017018544.2:c.578T>G	XP_016874033.1:p.Leu193Arg
XM_017018545.2:c.413T>G	XP_016874034.1:p.Leu138Arg
NM_001318369.2:c.752T>G	NP_001305298.1:p.Leu251Arg
NM_004211.5:c.1454T>G MANE Select	NP_004202.4:p.Leu485Arg