Canonical Allele Identifier: CA506001145

Gene: SLC5A5

Linked Data

• MyVariant Identifiers: chr19:g.18001747A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17890938A>T , CM000681.2:g.17890938A>T	GRCh38
NC_000019.9:g.18001747A>T , CM000681.1:g.18001747A>T	GRCh37
NC_000019.8:g.17862747A>T	NCBI36
NG_012930.1:g.23966A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222248.4:c.1704A>T MANE Select	ENSP00000222248.2:p.Ala568=
ENST00000222248.3:c.1704A>T	ENSP00000222248.2:p.Ala568=
NM_000453.2:c.1704A>T	NP_000444.1:p.Ala568=
XM_011528192.1:c.1737A>T	XP_011526494.1:p.Ala579=
XM_011528193.1:c.1470A>T	XP_011526495.1:p.Ala490=
XM_011528194.1:c.1371A>T	XP_011526496.1:p.Ala457=
XM_011528192.2:c.1737A>T	XP_011526494.1:p.Ala579=
XM_011528193.3:c.1470A>T	XP_011526495.1:p.Ala490=
XM_011528194.3:c.1371A>T	XP_011526496.1:p.Ala457=
XM_017027158.1:c.1437A>T	XP_016882647.1:p.Ala479=
NM_000453.3:c.1704A>T MANE Select	NP_000444.1:p.Ala568=