Canonical Allele Identifier: CA10198302
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1996914
ClinVar RCV Id: RCV002807115
dbSNP Id: rs780176626

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104831A>G , CM000684.2:g.32104831A>G GRCh38
NC_000022.10:g.32500818A>G , CM000684.1:g.32500818A>G GRCh37
NC_000022.9:g.30830818A>G NCBI36
NG_017045.1:g.66800A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1711A>G MANE Select ENSP00000266088.4:p.Ile571Val
ENST00000266088.8:c.1711A>G ENSP00000266088.4:p.Ile571Val
ENST00000543737.2:c.1330A>G ENSP00000444898.1:p.Ile444Val
NM_000343.3:c.1711A>G NP_000334.1:p.Ile571Val
NM_001256314.1:c.1330A>G NP_001243243.1:p.Ile444Val
XR_938173.1:n.591+2007T>C
XR_938174.1:n.486+15024T>C
NM_000343.4:c.1711A>G MANE Select NP_000334.1:p.Ile571Val
NM_001256314.2:c.1330A>G NP_001243243.1:p.Ile444Val