Canonical Allele Identifier: CA342798

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20630721T>G , CM000673.2:g.20630721T>G	GRCh38
NC_000011.9:g.20652267T>G , CM000673.1:g.20652267T>G	GRCh37
NC_000011.8:g.20608843T>G	NCBI36
NG_013086.1:g.36322T>G
NG_013086.2:g.36322T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.1530T>G MANE Select	NP_004202.4:p.Ser510Arg
ENST00000525748.6:c.1530T>G MANE Select	ENSP00000434364.2:p.Ser510Arg
NM_001318369.1:c.828T>G	NP_001305298.1:p.Ser276Arg
NM_001318369.2:c.828T>G	NP_001305298.1:p.Ser276Arg
NM_004211.3:c.1530T>G	NP_004202.2:p.Ser510Arg
NM_004211.4:c.1530T>G	NP_004202.3:p.Ser510Arg
ENST00000298923.11:c.*827T>G	ENSP00000298923.7:n.*827T>G
ENST00000525748.5:c.1530T>G	ENSP00000434364.1:p.Ser510Arg
ENST00000528440.1:n.61T>G
XM_005253225.1:c.828T>G	XP_005253282.1:p.Ser276Arg
XM_011520473.1:c.1530T>G	XP_011518775.1:p.Ser510Arg
XM_017018544.2:c.654T>G	XP_016874033.1:p.Ser218Arg
XM_017018545.2:c.489T>G	XP_016874034.1:p.Ser163Arg