Canonical Allele Identifier: CA2326083225
Gene: SLC5A5 HGNC NCBI

Linked Data

dbSNP Id: rs905192590

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17893948C>T , CM000681.2:g.17893948C>T GRCh38
NC_000019.9:g.18004757C>T , CM000681.1:g.18004757C>T GRCh37
NC_000019.8:g.17865757C>T NCBI36
NG_012930.1:g.26976C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222248.4:c.*71C>T MANE Select ENSP00000222248.2:n.*71C>T
ENST00000222248.3:c.*71C>T ENSP00000222248.2:n.*71C>T
NM_000453.2:c.*71C>T NP_000444.1:n.*71C>T
XM_011528192.1:c.*71C>T XP_011526494.1:n.*71C>T
XM_011528193.1:c.*71C>T XP_011526495.1:n.*71C>T
XM_011528194.1:c.*71C>T XP_011526496.1:n.*71C>T
XM_011528192.2:c.*71C>T XP_011526494.1:n.*71C>T
XM_011528193.3:c.*71C>T XP_011526495.1:n.*71C>T
XM_011528194.3:c.*71C>T XP_011526496.1:n.*71C>T
XM_017027158.1:c.*71C>T XP_016882647.1:n.*71C>T
NM_000453.3:c.*71C>T MANE Select NP_000444.1:n.*71C>T