Canonical Allele Identifier: CA404770982

Gene: SLC5A5

Linked Data

• MyVariant Identifiers: chr19:g.18001748C>G (hg19) ; chr19:g.17890939C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17890939C>G , CM000681.2:g.17890939C>G	GRCh38
NC_000019.9:g.18001748C>G , CM000681.1:g.18001748C>G	GRCh37
NC_000019.8:g.17862748C>G	NCBI36
NG_012930.1:g.23967C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.1705C>G MANE Select	ENSP00000222248.2:p.Arg569Gly
ENST00000222248.3:c.1705C>G	ENSP00000222248.2:p.Arg569Gly
NM_000453.2:c.1705C>G	NP_000444.1:p.Arg569Gly
XM_011528192.1:c.1738C>G	XP_011526494.1:p.Arg580Gly
XM_011528193.1:c.1471C>G	XP_011526495.1:p.Arg491Gly
XM_011528194.1:c.1372C>G	XP_011526496.1:p.Arg458Gly
XM_011528192.2:c.1738C>G	XP_011526494.1:p.Arg580Gly
XM_011528193.3:c.1471C>G	XP_011526495.1:p.Arg491Gly
XM_011528194.3:c.1372C>G	XP_011526496.1:p.Arg458Gly
XM_017027158.1:c.1438C>G	XP_016882647.1:p.Arg480Gly
NM_000453.3:c.1705C>G MANE Select	NP_000444.1:p.Arg569Gly