Canonical Allele Identifier: CA10652326
Gene: SLC5A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 328548
ClinVar RCV Id: RCV000323427
dbSNP Id: rs12327843

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000222248.3:c.*226T>C ENSP00000222248.2:p.=
NM_000453.2:c.*226T>C VV NP_000444.1:p.=
XM_011528192.1:c.*226T>C XP_011526494.1:p.=
XM_011528193.1:c.*226T>C XP_011526495.1:p.=
XM_011528194.1:c.*226T>C XP_011526496.1:p.=