Canonical Allele Identifier: CA1956619757

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1853034888

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628050_20628051del , CM000673.2:g.20628050_20628051del	GRCh38
NC_000011.9:g.20649596_20649597del , CM000673.1:g.20649596_20649597del	GRCh37
NC_000011.8:g.20606172_20606173del	NCBI36
NG_013086.1:g.33651_33652del
NG_013086.2:g.33651_33652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1466_1467del MANE Select	ENSP00000434364.2:p.Ser489PhefsTer?
ENST00000298923.11:c.*763_*764del	ENSP00000298923.7:n.*763_*764del
ENST00000525748.5:c.1466_1467del	ENSP00000434364.1:p.Ser489PhefsTer?
NM_004211.3:c.1466_1467del	NP_004202.2:p.Ser489PhefsTer?
XM_005253225.1:c.764_765del	XP_005253282.1:p.Ser255PhefsTer?
XM_011520473.1:c.1466_1467del	XP_011518775.1:p.Ser489PhefsTer?
NM_001318369.1:c.764_765del	NP_001305298.1:p.Ser255PhefsTer?
NM_004211.4:c.1466_1467del	NP_004202.3:p.Ser489PhefsTer?
XM_017018544.2:c.590_591del	XP_016874033.1:p.Ser197PhefsTer?
XM_017018545.2:c.425_426del	XP_016874034.1:p.Ser142PhefsTer?
NM_001318369.2:c.764_765del	NP_001305298.1:p.Ser255PhefsTer?
NM_004211.5:c.1466_1467del MANE Select	NP_004202.4:p.Ser489PhefsTer?