Canonical Allele Identifier: CA2401804275
Gene: SLC5A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104900T= , CM000684.2:g.32104900T= GRCh38
NC_000022.10:g.32500887T= , CM000684.1:g.32500887T= GRCh37
NC_000022.9:g.30830887T= NCBI36
NG_017045.1:g.66869T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1771+9T= MANE Select ENSP00000266088.4:n.1771+9T=
ENST00000266088.8:c.1771+9T= ENSP00000266088.4:n.1771+9T=
ENST00000543737.2:c.1390+9T= ENSP00000444898.1:n.1390+9T=
NM_000343.3:c.1771+9T= NP_000334.1:n.1771+9T=
NM_001256314.1:c.1390+9T= NP_001243243.1:n.1390+9T=
XR_938173.1:n.591+1938A=
XR_938174.1:n.486+14955A=
NM_000343.4:c.1771+9T= MANE Select NP_000334.1:n.1771+9T=
NM_001256314.2:c.1390+9T= NP_001243243.1:n.1390+9T=
Search 100 bp 5'
Search 100 bp 3'