Canonical Allele Identifier: CA411307290
Gene: SLC5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32043283T>A , CM000684.2:g.32043283T>A GRCh38
NC_000022.10:g.32439270T>A , CM000684.1:g.32439270T>A GRCh37
NC_000022.9:g.30769270T>A NCBI36
NG_017045.1:g.5252T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000266088.9:c.2T>A MANE Select ENSP00000266088.4:p.Met1Lys
ENST00000266088.8:c.2T>A ENSP00000266088.4:p.Met1Lys
NM_000343.3:c.2T>A NP_000334.1:p.Met1Lys
XM_011530331.1:c.2T>A XP_011528633.1:p.Met1Lys
NM_000343.4:c.2T>A MANE Select NP_000334.1:p.Met1Lys