Canonical Allele Identifier: CA9303113

Gene: SLC5A5

Linked Data

• ClinVar Variation Id: 328539
• ClinVar RCV Id: RCV000289176 ; RCV003565411
• dbSNP Id: rs775752734
• ExAC: 19:17994561 G / A
• gnomAD v2: 19-17994561-G-A
• gnomAD v3: 19-17883752-G-A
• gnomAD v4: 19-17883752-G-A
• COSMIC: COSM3728725
• MyVariant Identifiers: chr19:g.17994561G>A (hg19) ; chr19:g.17883752G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17883752G>A , CM000681.2:g.17883752G>A	GRCh38
NC_000019.9:g.17994561G>A , CM000681.1:g.17994561G>A	GRCh37
NC_000019.8:g.17855561G>A	NCBI36
NG_012930.1:g.16780G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.1314G>A MANE Select	ENSP00000222248.2:p.Pro438=
ENST00000222248.3:c.1314G>A	ENSP00000222248.2:p.Pro438=
ENST00000597109.1:n.313G>A
NM_000453.2:c.1314G>A	NP_000444.1:p.Pro438=
XM_011528192.1:c.1347G>A	XP_011526494.1:p.Pro449=
XM_011528193.1:c.1080G>A	XP_011526495.1:p.Pro360=
XM_011528194.1:c.981G>A	XP_011526496.1:p.Pro327=
XM_011528192.2:c.1347G>A	XP_011526494.1:p.Pro449=
XM_011528193.3:c.1080G>A	XP_011526495.1:p.Pro360=
XM_011528194.3:c.981G>A	XP_011526496.1:p.Pro327=
XM_017027158.1:c.1047G>A	XP_016882647.1:p.Pro349=
NM_000453.3:c.1314G>A MANE Select	NP_000444.1:p.Pro438=