Canonical Allele Identifier: CA2401804288

Gene: SLC5A1

Linked Data

• dbSNP Id: rs2094042806

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104930T>G , CM000684.2:g.32104930T>G	GRCh38
NC_000022.10:g.32500917T>G , CM000684.1:g.32500917T>G	GRCh37
NC_000022.9:g.30830917T>G	NCBI36
NG_017045.1:g.66899T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1771+39T>G MANE Select	ENSP00000266088.4:n.1771+39T>G
ENST00000266088.8:c.1771+39T>G	ENSP00000266088.4:n.1771+39T>G
ENST00000543737.2:c.1390+39T>G	ENSP00000444898.1:n.1390+39T>G
NM_000343.3:c.1771+39T>G	NP_000334.1:n.1771+39T>G
NM_001256314.1:c.1390+39T>G	NP_001243243.1:n.1390+39T>G
XR_938173.1:n.591+1908A>C
XR_938174.1:n.486+14925A>C
NM_000343.4:c.1771+39T>G MANE Select	NP_000334.1:n.1771+39T>G
NM_001256314.2:c.1390+39T>G	NP_001243243.1:n.1390+39T>G