Canonical Allele Identifier: CA404770948

Gene: SLC5A5

Linked Data

• MyVariant Identifiers: chr19:g.18001743T>A (hg19) ; chr19:g.17890934T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17890934T>A , CM000681.2:g.17890934T>A	GRCh38
NC_000019.9:g.18001743T>A , CM000681.1:g.18001743T>A	GRCh37
NC_000019.8:g.17862743T>A	NCBI36
NG_012930.1:g.23962T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.1700T>A MANE Select	ENSP00000222248.2:p.Leu567His
ENST00000222248.3:c.1700T>A	ENSP00000222248.2:p.Leu567His
NM_000453.2:c.1700T>A	NP_000444.1:p.Leu567His
XM_011528192.1:c.1733T>A	XP_011526494.1:p.Leu578His
XM_011528193.1:c.1466T>A	XP_011526495.1:p.Leu489His
XM_011528194.1:c.1367T>A	XP_011526496.1:p.Leu456His
XM_011528192.2:c.1733T>A	XP_011526494.1:p.Leu578His
XM_011528193.3:c.1466T>A	XP_011526495.1:p.Leu489His
XM_011528194.3:c.1367T>A	XP_011526496.1:p.Leu456His
XM_017027158.1:c.1433T>A	XP_016882647.1:p.Leu478His
NM_000453.3:c.1700T>A MANE Select	NP_000444.1:p.Leu567His