Canonical Allele Identifier: CA5921398

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20626733C>T , CM000673.2:g.20626733C>T	GRCh38
NC_000011.9:g.20648279C>T , CM000673.1:g.20648279C>T	GRCh37
NC_000011.8:g.20604855C>T	NCBI36
NG_013086.1:g.32334C>T
NG_013086.2:g.32334C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.1286C>T MANE Select	NP_004202.4:p.Pro429Leu
ENST00000525748.6:c.1286C>T MANE Select	ENSP00000434364.2:p.Pro429Leu
NM_001318369.1:c.584C>T	NP_001305298.1:p.Pro195Leu
NM_001318369.2:c.584C>T	NP_001305298.1:p.Pro195Leu
NM_004211.3:c.1286C>T	NP_004202.2:p.Pro429Leu
NM_004211.4:c.1286C>T	NP_004202.3:p.Pro429Leu
ENST00000298923.11:c.*583C>T	ENSP00000298923.7:n.*583C>T
ENST00000525748.5:c.1286C>T	ENSP00000434364.1:p.Pro429Leu
XM_005253225.1:c.584C>T	XP_005253282.1:p.Pro195Leu
XM_011520473.1:c.1286C>T	XP_011518775.1:p.Pro429Leu
XM_017018544.2:c.410C>T	XP_016874033.1:p.Pro137Leu
XM_017018545.2:c.245C>T	XP_016874034.1:p.Pro82Leu