Canonical Allele Identifier: CA5921135

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20604316C>T , CM000673.2:g.20604316C>T	GRCh38
NC_000011.9:g.20625862C>T , CM000673.1:g.20625862C>T	GRCh37
NC_000011.8:g.20582438C>T	NCBI36
NG_013086.1:g.9917C>T
NG_013086.2:g.9917C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.571C>T MANE Select	NP_004202.4:p.Arg191Ter
ENST00000525748.6:c.571C>T MANE Select	ENSP00000434364.2:p.Arg191Ter
NM_001318369.1:c.-24+2651C>T	NP_001305298.1:n.-24+2651C>T
NM_001318369.2:c.-24+2651C>T	NP_001305298.1:n.-24+2651C>T
NM_004211.3:c.571C>T	NP_004202.2:p.Arg191Ter
NM_004211.4:c.571C>T	NP_004202.3:p.Arg191Ter
ENST00000298923.11:c.540+2651C>T	ENSP00000298923.7:n.540+2651C>T
ENST00000525748.5:c.571C>T	ENSP00000434364.1:p.Arg191Ter
XM_005253225.1:c.-24+2651C>T	XP_005253282.1:n.-24+2651C>T
XM_011520473.1:c.571C>T	XP_011518775.1:p.Arg191Ter
XM_017018545.2:c.-57+4641C>T	XP_016874034.1:n.-57+4641C>T