Canonical Allele Identifier: CA323375574

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32084437A>G , CM000684.2:g.32084437A>G	GRCh38
NC_000022.10:g.32480424A>G , CM000684.1:g.32480424A>G	GRCh37
NC_000022.9:g.30810424A>G	NCBI36
NG_017045.1:g.46406A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000343.4:c.665-2A>G MANE Select	NP_000334.1:n.665-2A>G
ENST00000266088.9:c.665-2A>G MANE Select	ENSP00000266088.4:n.665-2A>G
NM_000343.3:c.665-2A>G	NP_000334.1:n.665-2A>G
NM_001256314.1:c.284-2A>G	NP_001243243.1:n.284-2A>G
NM_001256314.2:c.284-2A>G	NP_001243243.1:n.284-2A>G
ENST00000266088.8:c.665-2A>G	ENSP00000266088.4:n.665-2A>G
ENST00000486394.1:n.105-2A>G
ENST00000543737.2:c.284-2A>G	ENSP00000444898.1:n.284-2A>G
XM_011530331.1:c.665-2A>G	XP_011528633.1:n.665-2A>G
XR_938173.1:n.592-15634T>C
XR_938174.1:n.487-15634T>C