Canonical Allele Identifier: CA340456

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20607583C>G , CM000673.2:g.20607583C>G	GRCh38
NC_000011.9:g.20629129C>G , CM000673.1:g.20629129C>G	GRCh37
NC_000011.8:g.20585705C>G	NCBI36
NG_013086.1:g.13184C>G
NG_013086.2:g.13184C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.916C>G MANE Select	NP_004202.4:p.Leu306Val
ENST00000525748.6:c.916C>G MANE Select	ENSP00000434364.2:p.Leu306Val
NM_001318369.1:c.214C>G	NP_001305298.1:p.Leu72Val
NM_001318369.2:c.214C>G	NP_001305298.1:p.Leu72Val
NM_004211.3:c.916C>G	NP_004202.2:p.Leu306Val
NM_004211.4:c.916C>G	NP_004202.3:p.Leu306Val
ENST00000298923.11:c.*213C>G	ENSP00000298923.7:n.*213C>G
ENST00000525748.5:c.916C>G	ENSP00000434364.1:p.Leu306Val
XM_005253225.1:c.214C>G	XP_005253282.1:p.Leu72Val
XM_011520473.1:c.916C>G	XP_011518775.1:p.Leu306Val
XM_017018544.2:c.109+445C>G	XP_016874033.1:n.109+445C>G
XM_017018545.2:c.-56-7096C>G	XP_016874034.1:n.-56-7096C>G