Canonical Allele Identifier: CA5921540

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20636333C>T , CM000673.2:g.20636333C>T	GRCh38
NC_000011.9:g.20657879C>T , CM000673.1:g.20657879C>T	GRCh37
NC_000011.8:g.20614455C>T	NCBI36
NG_013086.1:g.41934C>T
NG_013086.2:g.41934C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.1651C>T MANE Select	NP_004202.4:p.Pro551Ser
ENST00000525748.6:c.1651C>T MANE Select	ENSP00000434364.2:p.Pro551Ser
NM_001318369.1:c.949C>T	NP_001305298.1:p.Pro317Ser
NM_001318369.2:c.949C>T	NP_001305298.1:p.Pro317Ser
NM_004211.3:c.1651C>T	NP_004202.2:p.Pro551Ser
NM_004211.4:c.1651C>T	NP_004202.3:p.Pro551Ser
ENST00000298923.11:c.*948C>T	ENSP00000298923.7:n.*948C>T
ENST00000525748.5:c.1651C>T	ENSP00000434364.1:p.Pro551Ser
ENST00000528440.1:n.182C>T
XM_005253225.1:c.949C>T	XP_005253282.1:p.Pro317Ser
XM_011520473.1:c.1651C>T	XP_011518775.1:p.Pro551Ser
XM_017018544.2:c.775C>T	XP_016874033.1:p.Pro259Ser
XM_017018545.2:c.610C>T	XP_016874034.1:p.Pro204Ser