Canonical Allele Identifier: CA2401804157
Gene: SLC5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104700T= , CM000684.2:g.32104700T= GRCh38
NC_000022.10:g.32500687T= , CM000684.1:g.32500687T= GRCh37
NC_000022.9:g.30830687T= NCBI36
NG_017045.1:g.66669T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1666-86T= MANE Select ENSP00000266088.4:n.1666-86T=
ENST00000266088.8:c.1666-86T= ENSP00000266088.4:n.1666-86T=
ENST00000543737.2:c.1285-86T= ENSP00000444898.1:n.1285-86T=
NM_000343.3:c.1666-86T= NP_000334.1:n.1666-86T=
NM_001256314.1:c.1285-86T= NP_001243243.1:n.1285-86T=
XR_938173.1:n.591+2138A=
XR_938174.1:n.486+15155A=
NM_000343.4:c.1666-86T= MANE Select NP_000334.1:n.1666-86T=
NM_001256314.2:c.1285-86T= NP_001243243.1:n.1285-86T=