Canonical Allele Identifier: CA2583492292

Gene: SLC5A5

Linked Data

• gnomAD v4: 19-17891051-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17891051G>A , CM000681.2:g.17891051G>A	GRCh38
NC_000019.9:g.18001860G>A , CM000681.1:g.18001860G>A	GRCh37
NC_000019.8:g.17862860G>A	NCBI36
NG_012930.1:g.24079G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222248.4:c.1767+50G>A MANE Select	ENSP00000222248.2:n.1767+50G>A
ENST00000222248.3:c.1767+50G>A	ENSP00000222248.2:n.1767+50G>A
NM_000453.2:c.1767+50G>A	NP_000444.1:n.1767+50G>A
XM_011528192.1:c.1800+50G>A	XP_011526494.1:n.1800+50G>A
XM_011528193.1:c.1533+50G>A	XP_011526495.1:n.1533+50G>A
XM_011528194.1:c.1434+50G>A	XP_011526496.1:n.1434+50G>A
XM_011528192.2:c.1800+50G>A	XP_011526494.1:n.1800+50G>A
XM_011528193.3:c.1533+50G>A	XP_011526495.1:n.1533+50G>A
XM_011528194.3:c.1434+50G>A	XP_011526496.1:n.1434+50G>A
XM_017027158.1:c.1500+50G>A	XP_016882647.1:n.1500+50G>A
NM_000453.3:c.1767+50G>A MANE Select	NP_000444.1:n.1767+50G>A