Canonical Allele Identifier: CA404782294

Gene: SLC5A5

Linked Data

• ClinVar Variation Id: 2877208
• ClinVar RCV Id: RCV003712769
• gnomAD v4: 19-17874136-A-G
• MyVariant Identifiers: chr19:g.17984945A>G (hg19) ; chr19:g.17874136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17874136A>G , CM000681.2:g.17874136A>G	GRCh38
NC_000019.9:g.17984945A>G , CM000681.1:g.17984945A>G	GRCh37
NC_000019.8:g.17845945A>G	NCBI36
NG_012930.1:g.7164A>G

Transcript Alleles

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