Canonical Allele Identifier: CA2401804273
Gene: SLC5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104894G= , CM000684.2:g.32104894G= GRCh38
NC_000022.10:g.32500881G= , CM000684.1:g.32500881G= GRCh37
NC_000022.9:g.30830881G= NCBI36
NG_017045.1:g.66863G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1771+3G= MANE Select ENSP00000266088.4:n.1771+3G=
ENST00000266088.8:c.1771+3G= ENSP00000266088.4:n.1771+3G=
ENST00000543737.2:c.1390+3G= ENSP00000444898.1:n.1390+3G=
NM_000343.3:c.1771+3G= NP_000334.1:n.1771+3G=
NM_001256314.1:c.1390+3G= NP_001243243.1:n.1390+3G=
XR_938173.1:n.591+1944C=
XR_938174.1:n.486+14961C=
NM_000343.4:c.1771+3G= MANE Select NP_000334.1:n.1771+3G=
NM_001256314.2:c.1390+3G= NP_001243243.1:n.1390+3G=
Search 100 bp 5'
Search 100 bp 3'