Canonical Allele Identifier: CA379915928

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20652319G>A , CM000673.2:g.20652319G>A	GRCh38
NC_000011.9:g.20673865G>A , CM000673.1:g.20673865G>A	GRCh37
NC_000011.8:g.20630441G>A	NCBI36
NG_013086.1:g.57920G>A
NG_013086.2:g.57920G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.2101G>A MANE Select	NP_004202.4:p.Glu701Lys
ENST00000525748.6:c.2101G>A MANE Select	ENSP00000434364.2:p.Glu701Lys
NM_001318369.1:c.1399G>A	NP_001305298.1:p.Glu467Lys
NM_001318369.2:c.1399G>A	NP_001305298.1:p.Glu467Lys
NM_004211.3:c.2101G>A	NP_004202.2:p.Glu701Lys
NM_004211.4:c.2101G>A	NP_004202.3:p.Glu701Lys
ENST00000298923.11:c.*1398G>A	ENSP00000298923.7:n.*1398G>A
ENST00000525748.5:c.2101G>A	ENSP00000434364.1:p.Glu701Lys
ENST00000528440.1:n.632G>A
XM_005253225.1:c.1399G>A	XP_005253282.1:p.Glu467Lys
XM_011520473.1:c.2101G>A	XP_011518775.1:p.Glu701Lys
XM_017018544.2:c.1225G>A	XP_016874033.1:p.Glu409Lys
XM_017018545.2:c.1060G>A	XP_016874034.1:p.Glu354Lys