Canonical Allele Identifier: CA118971

Gene: SLC5A5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17882160G>A , CM000681.2:g.17882160G>A	GRCh38
NC_000019.9:g.17992969G>A , CM000681.1:g.17992969G>A	GRCh37
NC_000019.8:g.17853969G>A	NCBI36
NG_012930.1:g.15188G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000453.3:c.1183G>A MANE Select	NP_000444.1:p.Gly395Arg
ENST00000222248.4:c.1183G>A MANE Select	ENSP00000222248.2:p.Gly395Arg
NM_000453.2:c.1183G>A	NP_000444.1:p.Gly395Arg
ENST00000222248.3:c.1183G>A	ENSP00000222248.2:p.Gly395Arg
ENST00000597109.1:n.182G>A
XM_011528192.1:c.1216G>A	XP_011526494.1:p.Gly406Arg
XM_011528192.2:c.1216G>A	XP_011526494.1:p.Gly406Arg
XM_011528193.1:c.949G>A	XP_011526495.1:p.Gly317Arg
XM_011528193.3:c.949G>A	XP_011526495.1:p.Gly317Arg
XM_011528194.1:c.850G>A	XP_011526496.1:p.Gly284Arg
XM_011528194.3:c.850G>A	XP_011526496.1:p.Gly284Arg
XM_017027158.1:c.916G>A	XP_016882647.1:p.Gly306Arg