Canonical Allele Identifier: CA5921294

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20614739C>T , CM000673.2:g.20614739C>T	GRCh38
NC_000011.9:g.20636285C>T , CM000673.1:g.20636285C>T	GRCh37
NC_000011.8:g.20592861C>T	NCBI36
NG_013086.1:g.20340C>T
NG_013086.2:g.20340C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.1046C>T MANE Select	NP_004202.4:p.Thr349Ile
ENST00000525748.6:c.1046C>T MANE Select	ENSP00000434364.2:p.Thr349Ile
NM_001318369.1:c.344C>T	NP_001305298.1:p.Thr115Ile
NM_001318369.2:c.344C>T	NP_001305298.1:p.Thr115Ile
NM_004211.3:c.1046C>T	NP_004202.2:p.Thr349Ile
NM_004211.4:c.1046C>T	NP_004202.3:p.Thr349Ile
ENST00000298923.11:c.*343C>T	ENSP00000298923.7:n.*343C>T
ENST00000525748.5:c.1046C>T	ENSP00000434364.1:p.Thr349Ile
XM_005253225.1:c.344C>T	XP_005253282.1:p.Thr115Ile
XM_011520473.1:c.1046C>T	XP_011518775.1:p.Thr349Ile
XM_017018544.2:c.170C>T	XP_016874033.1:p.Thr57Ile
XM_017018545.2:c.5C>T	XP_016874034.1:p.Thr2Ile