Canonical Allele Identifier: CA411314531
Gene: SLC5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104801T>G , CM000684.2:g.32104801T>G GRCh38
NC_000022.10:g.32500788T>G , CM000684.1:g.32500788T>G GRCh37
NC_000022.9:g.30830788T>G NCBI36
NG_017045.1:g.66770T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1681T>G MANE Select ENSP00000266088.4:p.Trp561Gly
ENST00000266088.8:c.1681T>G ENSP00000266088.4:p.Trp561Gly
ENST00000543737.2:c.1300T>G ENSP00000444898.1:p.Trp434Gly
NM_000343.3:c.1681T>G NP_000334.1:p.Trp561Gly
NM_001256314.1:c.1300T>G NP_001243243.1:p.Trp434Gly
XR_938173.1:n.591+2037A>C
XR_938174.1:n.486+15054A>C
NM_000343.4:c.1681T>G MANE Select NP_000334.1:p.Trp561Gly
NM_001256314.2:c.1300T>G NP_001243243.1:p.Trp434Gly