Canonical Allele Identifier: CA5921551

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20636378A>G , CM000673.2:g.20636378A>G	GRCh38
NC_000011.9:g.20657924A>G , CM000673.1:g.20657924A>G	GRCh37
NC_000011.8:g.20614500A>G	NCBI36
NG_013086.1:g.41979A>G
NG_013086.2:g.41979A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.1696A>G MANE Select	NP_004202.4:p.Ile566Val
ENST00000525748.6:c.1696A>G MANE Select	ENSP00000434364.2:p.Ile566Val
NM_001318369.1:c.994A>G	NP_001305298.1:p.Ile332Val
NM_001318369.2:c.994A>G	NP_001305298.1:p.Ile332Val
NM_004211.3:c.1696A>G	NP_004202.2:p.Ile566Val
NM_004211.4:c.1696A>G	NP_004202.3:p.Ile566Val
ENST00000298923.11:c.*993A>G	ENSP00000298923.7:n.*993A>G
ENST00000525748.5:c.1696A>G	ENSP00000434364.1:p.Ile566Val
ENST00000528440.1:n.227A>G
XM_005253225.1:c.994A>G	XP_005253282.1:p.Ile332Val
XM_011520473.1:c.1696A>G	XP_011518775.1:p.Ile566Val
XM_017018544.2:c.820A>G	XP_016874033.1:p.Ile274Val
XM_017018545.2:c.655A>G	XP_016874034.1:p.Ile219Val