Canonical Allele Identifier: CA404784150

Gene: SLC5A5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17877979C>A , CM000681.2:g.17877979C>A	GRCh38
NC_000019.9:g.17988788C>A , CM000681.1:g.17988788C>A	GRCh37
NC_000019.8:g.17849788C>A	NCBI36
NG_012930.1:g.11007C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000453.3:c.855C>A MANE Select	NP_000444.1:p.Asn285Lys
ENST00000222248.4:c.855C>A MANE Select	ENSP00000222248.2:p.Asn285Lys
NM_000453.2:c.855C>A	NP_000444.1:p.Asn285Lys
ENST00000222248.3:c.855C>A	ENSP00000222248.2:p.Asn285Lys
XM_011528192.1:c.855C>A	XP_011526494.1:p.Asn285Lys
XM_011528192.2:c.855C>A	XP_011526494.1:p.Asn285Lys
XM_011528193.1:c.588C>A	XP_011526495.1:p.Asn196Lys
XM_011528193.3:c.588C>A	XP_011526495.1:p.Asn196Lys
XM_011528194.1:c.489C>A	XP_011526496.1:p.Asn163Lys
XM_011528194.3:c.489C>A	XP_011526496.1:p.Asn163Lys
XM_017027158.1:c.588C>A	XP_016882647.1:p.Asn196Lys