Canonical Allele Identifier: CA9303229

Gene: SLC5A5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17888397C>T , CM000681.2:g.17888397C>T	GRCh38
NC_000019.9:g.17999206C>T , CM000681.1:g.17999206C>T	GRCh37
NC_000019.8:g.17860206C>T	NCBI36
NG_012930.1:g.21425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.1593C>T MANE Select	ENSP00000222248.2:p.Tyr531=
ENST00000222248.3:c.1593C>T	ENSP00000222248.2:p.Tyr531=
NM_000453.2:c.1593C>T	NP_000444.1:p.Tyr531=
XM_011528192.1:c.1626C>T	XP_011526494.1:p.Tyr542=
XM_011528193.1:c.1359C>T	XP_011526495.1:p.Tyr453=
XM_011528194.1:c.1260C>T	XP_011526496.1:p.Tyr420=
XM_011528192.2:c.1626C>T	XP_011526494.1:p.Tyr542=
XM_011528193.3:c.1359C>T	XP_011526495.1:p.Tyr453=
XM_011528194.3:c.1260C>T	XP_011526496.1:p.Tyr420=
XM_017027158.1:c.1326C>T	XP_016882647.1:p.Tyr442=
NM_000453.3:c.1593C>T MANE Select	NP_000444.1:p.Tyr531=