Canonical Allele Identifier: CA5921189

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20607054C>A , CM000673.2:g.20607054C>A	GRCh38
NC_000011.9:g.20628600C>A , CM000673.1:g.20628600C>A	GRCh37
NC_000011.8:g.20585176C>A	NCBI36
NG_013086.1:g.12655C>A
NG_013086.2:g.12655C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.727C>A MANE Select	ENSP00000434364.2:p.Pro243Thr
ENST00000298923.11:c.*24C>A	ENSP00000298923.7:n.*24C>A
ENST00000525748.5:c.727C>A	ENSP00000434364.1:p.Pro243Thr
NM_004211.3:c.727C>A	NP_004202.2:p.Pro243Thr
XM_005253225.1:c.25C>A	XP_005253282.1:p.Pro9Thr
XM_011520473.1:c.727C>A	XP_011518775.1:p.Pro243Thr
NM_001318369.1:c.25C>A	NP_001305298.1:p.Pro9Thr
NM_004211.4:c.727C>A	NP_004202.3:p.Pro243Thr
XM_017018544.2:c.25C>A	XP_016874033.1:p.Pro9Thr
XM_017018545.2:c.-57+7379C>A	XP_016874034.1:n.-57+7379C>A
NM_001318369.2:c.25C>A	NP_001305298.1:p.Pro9Thr
NM_004211.5:c.727C>A MANE Select	NP_004202.4:p.Pro243Thr