Canonical Allele Identifier: CA411309253
Gene: SLC5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32049986T>A , CM000684.2:g.32049986T>A GRCh38
NC_000022.10:g.32445973T>A , CM000684.1:g.32445973T>A GRCh37
NC_000022.9:g.30775973T>A NCBI36
NG_017045.1:g.11955T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.179T>A MANE Select ENSP00000266088.4:p.Leu60Gln
ENST00000266088.8:c.179T>A ENSP00000266088.4:p.Leu60Gln
NM_000343.3:c.179T>A NP_000334.1:p.Leu60Gln
XM_011530331.1:c.179T>A XP_011528633.1:p.Leu60Gln
NM_000343.4:c.179T>A MANE Select NP_000334.1:p.Leu60Gln