Canonical Allele Identifier: CA5921153

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20604413A>G , CM000673.2:g.20604413A>G	GRCh38
NC_000011.9:g.20625959A>G , CM000673.1:g.20625959A>G	GRCh37
NC_000011.8:g.20582535A>G	NCBI36
NG_013086.1:g.10014A>G
NG_013086.2:g.10014A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004211.5:c.668A>G MANE Select	NP_004202.4:p.Gln223Arg
ENST00000525748.6:c.668A>G MANE Select	ENSP00000434364.2:p.Gln223Arg
NM_001318369.1:c.-23-2594A>G	NP_001305298.1:n.-23-2594A>G
NM_001318369.2:c.-23-2594A>G	NP_001305298.1:n.-23-2594A>G
NM_004211.3:c.668A>G	NP_004202.2:p.Gln223Arg
NM_004211.4:c.668A>G	NP_004202.3:p.Gln223Arg
ENST00000298923.11:c.541-2594A>G	ENSP00000298923.7:n.541-2594A>G
ENST00000525748.5:c.668A>G	ENSP00000434364.1:p.Gln223Arg
XM_005253225.1:c.-23-2594A>G	XP_005253282.1:n.-23-2594A>G
XM_011520473.1:c.668A>G	XP_011518775.1:p.Gln223Arg
XM_017018545.2:c.-57+4738A>G	XP_016874034.1:n.-57+4738A>G