Canonical Allele Identifier: CA5921748

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20654732C>T , CM000673.2:g.20654732C>T	GRCh38
NC_000011.9:g.20676278C>T , CM000673.1:g.20676278C>T	GRCh37
NC_000011.8:g.20632854C>T	NCBI36
NG_013086.1:g.60333C>T
NG_013086.2:g.60333C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.2258C>T MANE Select	NP_004202.4:p.Ser753Leu
ENST00000525748.6:c.2258C>T MANE Select	ENSP00000434364.2:p.Ser753Leu
NM_001318369.1:c.1556C>T	NP_001305298.1:p.Ser519Leu
NM_001318369.2:c.1556C>T	NP_001305298.1:p.Ser519Leu
NM_004211.3:c.2258C>T	NP_004202.2:p.Ser753Leu
NM_004211.4:c.2258C>T	NP_004202.3:p.Ser753Leu
ENST00000298923.11:c.*1555C>T	ENSP00000298923.7:n.*1555C>T
ENST00000525748.5:c.2258C>T	ENSP00000434364.1:p.Ser753Leu
ENST00000528440.1:n.789C>T
XM_005253225.1:c.1556C>T	XP_005253282.1:p.Ser519Leu
XM_011520473.1:c.2258C>T	XP_011518775.1:p.Ser753Leu
XM_017018544.2:c.1382C>T	XP_016874033.1:p.Ser461Leu
XM_017018545.2:c.1217C>T	XP_016874034.1:p.Ser406Leu