Canonical Allele Identifier: CA5921756

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20654764C>G , CM000673.2:g.20654764C>G	GRCh38
NC_000011.9:g.20676310C>G , CM000673.1:g.20676310C>G	GRCh37
NC_000011.8:g.20632886C>G	NCBI36
NG_013086.1:g.60365C>G
NG_013086.2:g.60365C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.2290C>G MANE Select	NP_004202.4:p.Gln764Glu
ENST00000525748.6:c.2290C>G MANE Select	ENSP00000434364.2:p.Gln764Glu
NM_001318369.1:c.1588C>G	NP_001305298.1:p.Gln530Glu
NM_001318369.2:c.1588C>G	NP_001305298.1:p.Gln530Glu
NM_004211.3:c.2290C>G	NP_004202.2:p.Gln764Glu
NM_004211.4:c.2290C>G	NP_004202.3:p.Gln764Glu
ENST00000298923.11:c.*1587C>G	ENSP00000298923.7:n.*1587C>G
ENST00000525748.5:c.2290C>G	ENSP00000434364.1:p.Gln764Glu
ENST00000528440.1:n.821C>G
XM_005253225.1:c.1588C>G	XP_005253282.1:p.Gln530Glu
XM_011520473.1:c.2290C>G	XP_011518775.1:p.Gln764Glu
XM_017018544.2:c.1414C>G	XP_016874033.1:p.Gln472Glu
XM_017018545.2:c.1249C>G	XP_016874034.1:p.Gln417Glu