Canonical Allele Identifier: CA632068763
Gene: SLC5A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17893553C>T , CM000681.2:g.17893553C>T GRCh38
NC_000019.9:g.18004362C>T , CM000681.1:g.18004362C>T GRCh37
NC_000019.8:g.17865362C>T NCBI36
NG_012930.1:g.26581C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222248.4:c.1768-160C>T MANE Select ENSP00000222248.2:n.1768-160C>T
ENST00000222248.3:c.1768-160C>T ENSP00000222248.2:n.1768-160C>T
NM_000453.2:c.1768-160C>T NP_000444.1:n.1768-160C>T
XM_011528192.1:c.1801-160C>T XP_011526494.1:n.1801-160C>T
XM_011528193.1:c.1534-160C>T XP_011526495.1:n.1534-160C>T
XM_011528194.1:c.1435-160C>T XP_011526496.1:n.1435-160C>T
XM_011528192.2:c.1801-160C>T XP_011526494.1:n.1801-160C>T
XM_011528193.3:c.1534-160C>T XP_011526495.1:n.1534-160C>T
XM_011528194.3:c.1435-160C>T XP_011526496.1:n.1435-160C>T
XM_017027158.1:c.1501-160C>T XP_016882647.1:n.1501-160C>T
NM_000453.3:c.1768-160C>T MANE Select NP_000444.1:n.1768-160C>T