Canonical Allele Identifier: CA379913681

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20607030A>G , CM000673.2:g.20607030A>G	GRCh38
NC_000011.9:g.20628576A>G , CM000673.1:g.20628576A>G	GRCh37
NC_000011.8:g.20585152A>G	NCBI36
NG_013086.1:g.12631A>G
NG_013086.2:g.12631A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.703A>G MANE Select	NP_004202.4:p.Met235Val
ENST00000525748.6:c.703A>G MANE Select	ENSP00000434364.2:p.Met235Val
NM_001318369.1:c.1A>G	NP_001305298.1:p.Met1Val
NM_001318369.2:c.1A>G	NP_001305298.1:p.Met1Val
NM_004211.3:c.703A>G	NP_004202.2:p.Met235Val
NM_004211.4:c.703A>G	NP_004202.3:p.Met235Val
ENST00000298923.11:c.564A>G	ENSP00000298923.7:p.Ter188Trp
ENST00000525748.5:c.703A>G	ENSP00000434364.1:p.Met235Val
XM_005253225.1:c.1A>G	XP_005253282.1:p.Met1Val
XM_011520473.1:c.703A>G	XP_011518775.1:p.Met235Val
XM_017018544.2:c.1A>G	XP_016874033.1:p.Met1Val
XM_017018545.2:c.-57+7355A>G	XP_016874034.1:n.-57+7355A>G