Canonical Allele Identifier: CA404770944

Gene: SLC5A5

Linked Data

• MyVariant Identifiers: chr19:g.18001742C>T (hg19) ; chr19:g.17890933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17890933C>T , CM000681.2:g.17890933C>T	GRCh38
NC_000019.9:g.18001742C>T , CM000681.1:g.18001742C>T	GRCh37
NC_000019.8:g.17862742C>T	NCBI36
NG_012930.1:g.23961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.1699C>T MANE Select	ENSP00000222248.2:p.Leu567Phe
ENST00000222248.3:c.1699C>T	ENSP00000222248.2:p.Leu567Phe
NM_000453.2:c.1699C>T	NP_000444.1:p.Leu567Phe
XM_011528192.1:c.1732C>T	XP_011526494.1:p.Leu578Phe
XM_011528193.1:c.1465C>T	XP_011526495.1:p.Leu489Phe
XM_011528194.1:c.1366C>T	XP_011526496.1:p.Leu456Phe
XM_011528192.2:c.1732C>T	XP_011526494.1:p.Leu578Phe
XM_011528193.3:c.1465C>T	XP_011526495.1:p.Leu489Phe
XM_011528194.3:c.1366C>T	XP_011526496.1:p.Leu456Phe
XM_017027158.1:c.1432C>T	XP_016882647.1:p.Leu478Phe
NM_000453.3:c.1699C>T MANE Select	NP_000444.1:p.Leu567Phe