Canonical Allele Identifier: CA10652326
Gene: SLC5A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 328548
dbSNP Id: rs12327843

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17894103T>C , CM000681.2:g.17894103T>C GRCh38
NC_000019.9:g.18004912T>C , CM000681.1:g.18004912T>C GRCh37
NC_000019.8:g.17865912T>C NCBI36
NG_012930.1:g.27131T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222248.4:c.*226T>C MANE Select ENSP00000222248.2:n.*226T>C
ENST00000222248.3:c.*226T>C ENSP00000222248.2:n.*226T>C
NM_000453.2:c.*226T>C NP_000444.1:n.*226T>C
XM_011528192.1:c.*226T>C XP_011526494.1:n.*226T>C
XM_011528193.1:c.*226T>C XP_011526495.1:n.*226T>C
XM_011528194.1:c.*226T>C XP_011526496.1:n.*226T>C
XM_011528192.2:c.*226T>C XP_011526494.1:n.*226T>C
XM_011528193.3:c.*226T>C XP_011526495.1:n.*226T>C
XM_011528194.3:c.*226T>C XP_011526496.1:n.*226T>C
XM_017027158.1:c.*226T>C XP_016882647.1:n.*226T>C
NM_000453.3:c.*226T>C MANE Select NP_000444.1:n.*226T>C