Canonical Allele Identifier: CA783875893

Gene: SLC5A5

Linked Data

• ClinVar Variation Id: 2816927
• ClinVar RCV Id: RCV003711023
• dbSNP Id: rs1292838118
• MyVariant Identifiers: chr19:g.17984928C>T (hg19) ; chr19:g.17874119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17874119C>T , CM000681.2:g.17874119C>T	GRCh38
NC_000019.9:g.17984928C>T , CM000681.1:g.17984928C>T	GRCh37
NC_000019.8:g.17845928C>T	NCBI36
NG_012930.1:g.7147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.358-19C>T MANE Select	ENSP00000222248.2:n.358-19C>T
ENST00000222248.3:c.358-19C>T	ENSP00000222248.2:n.358-19C>T
NM_000453.2:c.358-19C>T	NP_000444.1:n.358-19C>T
XM_011528192.1:c.358-19C>T	XP_011526494.1:n.358-19C>T
XM_011528193.1:c.91-19C>T	XP_011526495.1:n.91-19C>T
XM_011528194.1:c.-9-19C>T	XP_011526496.1:n.-9-19C>T
XM_011528192.2:c.358-19C>T	XP_011526494.1:n.358-19C>T
XM_011528193.3:c.91-19C>T	XP_011526495.1:n.91-19C>T
XM_011528194.3:c.-9-19C>T	XP_011526496.1:n.-9-19C>T
XM_017027158.1:c.91-19C>T	XP_016882647.1:n.91-19C>T
NM_000453.3:c.358-19C>T MANE Select	NP_000444.1:n.358-19C>T