Canonical Allele Identifier: CA1956619756

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628043_20628045delinsACT , CM000673.2:g.20628043_20628045delinsACT	GRCh38
NC_000011.9:g.20649589_20649591delinsACT , CM000673.1:g.20649589_20649591delinsACT	GRCh37
NC_000011.8:g.20606165_20606167delinsACT	NCBI36
NG_013086.1:g.33644_33646delinsACT
NG_013086.2:g.33644_33646delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1459_1461delinsACT MANE Select	ENSP00000434364.2:p.Thr487=
ENST00000298923.11:c.*756_*758delinsACT	ENSP00000298923.7:n.*756_*758delinsACT
ENST00000525748.5:c.1459_1461delinsACT	ENSP00000434364.1:p.Thr487=
NM_004211.3:c.1459_1461delinsACT	NP_004202.2:p.Thr487=
XM_005253225.1:c.757_759delinsACT	XP_005253282.1:p.Thr253=
XM_011520473.1:c.1459_1461delinsACT	XP_011518775.1:p.Thr487=
NM_001318369.1:c.757_759delinsACT	NP_001305298.1:p.Thr253=
NM_004211.4:c.1459_1461delinsACT	NP_004202.3:p.Thr487=
XM_017018544.2:c.583_585delinsACT	XP_016874033.1:p.Thr195=
XM_017018545.2:c.418_420delinsACT	XP_016874034.1:p.Thr140=
NM_001318369.2:c.757_759delinsACT	NP_001305298.1:p.Thr253=
NM_004211.5:c.1459_1461delinsACT MANE Select	NP_004202.4:p.Thr487=