Canonical Allele Identifier: CA2401804071
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs2094041625
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104491T>A , CM000684.2:g.32104491T>A GRCh38
NC_000022.10:g.32500478T>A , CM000684.1:g.32500478T>A GRCh37
NC_000022.9:g.30830478T>A NCBI36
NG_017045.1:g.66460T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1666-295T>A MANE Select ENSP00000266088.4:n.1666-295T>A
ENST00000266088.8:c.1666-295T>A ENSP00000266088.4:n.1666-295T>A
ENST00000543737.2:c.1285-295T>A ENSP00000444898.1:n.1285-295T>A
NM_000343.3:c.1666-295T>A NP_000334.1:n.1666-295T>A
NM_001256314.1:c.1285-295T>A NP_001243243.1:n.1285-295T>A
XR_938173.1:n.591+2347A>T
XR_938174.1:n.486+15364A>T
NM_000343.4:c.1666-295T>A MANE Select NP_000334.1:n.1666-295T>A
NM_001256314.2:c.1285-295T>A NP_001243243.1:n.1285-295T>A
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