Canonical Allele Identifier: CA404784151
Community Standard Title: NM_000453.3(SLC5A5):c.855C>G (p.Asn285Lys)
Gene: SLC5A5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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