Canonical Allele Identifier: CA411306404

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32085036G>A , CM000684.2:g.32085036G>A	GRCh38
NC_000022.10:g.32481023G>A , CM000684.1:g.32481023G>A	GRCh37
NC_000022.9:g.30811023G>A	NCBI36
NG_017045.1:g.47005G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000343.4:c.1021+1G>A MANE Select	NP_000334.1:n.1021+1G>A
ENST00000266088.9:c.1021+1G>A MANE Select	ENSP00000266088.4:n.1021+1G>A
NM_000343.3:c.1021+1G>A	NP_000334.1:n.1021+1G>A
NM_001256314.1:c.640+1G>A	NP_001243243.1:n.640+1G>A
NM_001256314.2:c.640+1G>A	NP_001243243.1:n.640+1G>A
ENST00000266088.8:c.1021+1G>A	ENSP00000266088.4:n.1021+1G>A
ENST00000477969.1:n.187+1G>A
ENST00000486394.1:n.461+1G>A
ENST00000543737.2:c.640+1G>A	ENSP00000444898.1:n.640+1G>A
XM_011530331.1:c.1021+1G>A	XP_011528633.1:n.1021+1G>A
XR_938173.1:n.592-16233C>T
XR_938174.1:n.487-16233C>T