Canonical Allele Identifier: CA379913733

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20607055C>G , CM000673.2:g.20607055C>G	GRCh38
NC_000011.9:g.20628601C>G , CM000673.1:g.20628601C>G	GRCh37
NC_000011.8:g.20585177C>G	NCBI36
NG_013086.1:g.12656C>G
NG_013086.2:g.12656C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.728C>G MANE Select	NP_004202.4:p.Pro243Arg
ENST00000525748.6:c.728C>G MANE Select	ENSP00000434364.2:p.Pro243Arg
NM_001318369.1:c.26C>G	NP_001305298.1:p.Pro9Arg
NM_001318369.2:c.26C>G	NP_001305298.1:p.Pro9Arg
NM_004211.3:c.728C>G	NP_004202.2:p.Pro243Arg
NM_004211.4:c.728C>G	NP_004202.3:p.Pro243Arg
ENST00000298923.11:c.*25C>G	ENSP00000298923.7:n.*25C>G
ENST00000525748.5:c.728C>G	ENSP00000434364.1:p.Pro243Arg
XM_005253225.1:c.26C>G	XP_005253282.1:p.Pro9Arg
XM_011520473.1:c.728C>G	XP_011518775.1:p.Pro243Arg
XM_017018544.2:c.26C>G	XP_016874033.1:p.Pro9Arg
XM_017018545.2:c.-57+7380C>G	XP_016874034.1:n.-57+7380C>G