Canonical Allele Identifier: CA404770975

Gene: SLC5A5

Linked Data

• MyVariant Identifiers: chr19:g.18001746C>T (hg19) ; chr19:g.17890937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17890937C>T , CM000681.2:g.17890937C>T	GRCh38
NC_000019.9:g.18001746C>T , CM000681.1:g.18001746C>T	GRCh37
NC_000019.8:g.17862746C>T	NCBI36
NG_012930.1:g.23965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.1703C>T MANE Select	ENSP00000222248.2:p.Ala568Val
ENST00000222248.3:c.1703C>T	ENSP00000222248.2:p.Ala568Val
NM_000453.2:c.1703C>T	NP_000444.1:p.Ala568Val
XM_011528192.1:c.1736C>T	XP_011526494.1:p.Ala579Val
XM_011528193.1:c.1469C>T	XP_011526495.1:p.Ala490Val
XM_011528194.1:c.1370C>T	XP_011526496.1:p.Ala457Val
XM_011528192.2:c.1736C>T	XP_011526494.1:p.Ala579Val
XM_011528193.3:c.1469C>T	XP_011526495.1:p.Ala490Val
XM_011528194.3:c.1370C>T	XP_011526496.1:p.Ala457Val
XM_017027158.1:c.1436C>T	XP_016882647.1:p.Ala479Val
NM_000453.3:c.1703C>T MANE Select	NP_000444.1:p.Ala568Val