Canonical Allele Identifier: CA2401804268
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs2094042688
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104888dup , CM000684.2:g.32104888dup GRCh38
NC_000022.10:g.32500875dup , CM000684.1:g.32500875dup GRCh37
NC_000022.9:g.30830875dup NCBI36
NG_017045.1:g.66857dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1768dup MANE Select ENSP00000266088.4:p.Ile590AsnfsTer7
ENST00000266088.8:c.1768dup ENSP00000266088.4:p.Ile590AsnfsTer7
ENST00000543737.2:c.1387dup ENSP00000444898.1:p.Ile463AsnfsTer7
NM_000343.3:c.1768dup NP_000334.1:p.Ile590AsnfsTer7
NM_001256314.1:c.1387dup NP_001243243.1:p.Ile463AsnfsTer7
XR_938173.1:n.591+1952dup
XR_938174.1:n.486+14969dup
NM_000343.4:c.1768dup MANE Select NP_000334.1:p.Ile590AsnfsTer7
NM_001256314.2:c.1387dup NP_001243243.1:p.Ile463AsnfsTer7
Search 100 bp 5'
Search 100 bp 3'