Canonical Allele Identifier: CA2401804103
Gene: SLC5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104570T= , CM000684.2:g.32104570T= GRCh38
NC_000022.10:g.32500557T= , CM000684.1:g.32500557T= GRCh37
NC_000022.9:g.30830557T= NCBI36
NG_017045.1:g.66539T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1666-216T= MANE Select ENSP00000266088.4:n.1666-216T=
ENST00000266088.8:c.1666-216T= ENSP00000266088.4:n.1666-216T=
ENST00000543737.2:c.1285-216T= ENSP00000444898.1:n.1285-216T=
NM_000343.3:c.1666-216T= NP_000334.1:n.1666-216T=
NM_001256314.1:c.1285-216T= NP_001243243.1:n.1285-216T=
XR_938173.1:n.591+2268A=
XR_938174.1:n.486+15285A=
NM_000343.4:c.1666-216T= MANE Select NP_000334.1:n.1666-216T=
NM_001256314.2:c.1285-216T= NP_001243243.1:n.1285-216T=
Search 100 bp 5'
Search 100 bp 3'