Canonical Allele Identifier: CA9303281

Gene: SLC5A5

Linked Data

• ClinVar Variation Id: 3165256
• ClinVar RCV Id: RCV004464107
• dbSNP Id: rs370961138
• ExAC: 19:18001749 G / A
• gnomAD v2: 19-18001749-G-A
• gnomAD v3: 19-17890940-G-A
• gnomAD v4: 19-17890940-G-A
• MyVariant Identifiers: chr19:g.18001749G>A (hg19) ; chr19:g.17890940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17890940G>A , CM000681.2:g.17890940G>A	GRCh38
NC_000019.9:g.18001749G>A , CM000681.1:g.18001749G>A	GRCh37
NC_000019.8:g.17862749G>A	NCBI36
NG_012930.1:g.23968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.1706G>A MANE Select	ENSP00000222248.2:p.Arg569Gln
ENST00000222248.3:c.1706G>A	ENSP00000222248.2:p.Arg569Gln
NM_000453.2:c.1706G>A	NP_000444.1:p.Arg569Gln
XM_011528192.1:c.1739G>A	XP_011526494.1:p.Arg580Gln
XM_011528193.1:c.1472G>A	XP_011526495.1:p.Arg491Gln
XM_011528194.1:c.1373G>A	XP_011526496.1:p.Arg458Gln
XM_011528192.2:c.1739G>A	XP_011526494.1:p.Arg580Gln
XM_011528193.3:c.1472G>A	XP_011526495.1:p.Arg491Gln
XM_011528194.3:c.1373G>A	XP_011526496.1:p.Arg458Gln
XM_017027158.1:c.1439G>A	XP_016882647.1:p.Arg480Gln
NM_000453.3:c.1706G>A MANE Select	NP_000444.1:p.Arg569Gln