Canonical Allele Identifier: CA5921692

Gene: SLC6A5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20652321G>A , CM000673.2:g.20652321G>A	GRCh38
NC_000011.9:g.20673867G>A , CM000673.1:g.20673867G>A	GRCh37
NC_000011.8:g.20630443G>A	NCBI36
NG_013086.1:g.57922G>A
NG_013086.2:g.57922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.2103G>A MANE Select	ENSP00000434364.2:p.Glu701=
ENST00000298923.11:c.*1400G>A	ENSP00000298923.7:n.*1400G>A
ENST00000525748.5:c.2103G>A	ENSP00000434364.1:p.Glu701=
ENST00000528440.1:n.634G>A
NM_004211.3:c.2103G>A	NP_004202.2:p.Glu701=
XM_005253225.1:c.1401G>A	XP_005253282.1:p.Glu467=
XM_011520473.1:c.2103G>A	XP_011518775.1:p.Glu701=
NM_001318369.1:c.1401G>A	NP_001305298.1:p.Glu467=
NM_004211.4:c.2103G>A	NP_004202.3:p.Glu701=
XM_017018544.2:c.1227G>A	XP_016874033.1:p.Glu409=
XM_017018545.2:c.1062G>A	XP_016874034.1:p.Glu354=
NM_001318369.2:c.1401G>A	NP_001305298.1:p.Glu467=
NM_004211.5:c.2103G>A MANE Select	NP_004202.4:p.Glu701=