Canonical Allele Identifier: CA404770962

Gene: SLC5A5

Linked Data

• gnomAD v4: 19-17890936-G-C
• MyVariant Identifiers: chr19:g.18001745G>C (hg19) ; chr19:g.17890936G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17890936G>C , CM000681.2:g.17890936G>C	GRCh38
NC_000019.9:g.18001745G>C , CM000681.1:g.18001745G>C	GRCh37
NC_000019.8:g.17862745G>C	NCBI36
NG_012930.1:g.23964G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.1702G>C MANE Select	ENSP00000222248.2:p.Ala568Pro
ENST00000222248.3:c.1702G>C	ENSP00000222248.2:p.Ala568Pro
NM_000453.2:c.1702G>C	NP_000444.1:p.Ala568Pro
XM_011528192.1:c.1735G>C	XP_011526494.1:p.Ala579Pro
XM_011528193.1:c.1468G>C	XP_011526495.1:p.Ala490Pro
XM_011528194.1:c.1369G>C	XP_011526496.1:p.Ala457Pro
XM_011528192.2:c.1735G>C	XP_011526494.1:p.Ala579Pro
XM_011528193.3:c.1468G>C	XP_011526495.1:p.Ala490Pro
XM_011528194.3:c.1369G>C	XP_011526496.1:p.Ala457Pro
XM_017027158.1:c.1435G>C	XP_016882647.1:p.Ala479Pro
NM_000453.3:c.1702G>C MANE Select	NP_000444.1:p.Ala568Pro