Canonical Allele Identifier: CA411303135

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32084447G>T , CM000684.2:g.32084447G>T	GRCh38
NC_000022.10:g.32480434G>T , CM000684.1:g.32480434G>T	GRCh37
NC_000022.9:g.30810434G>T	NCBI36
NG_017045.1:g.46416G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000343.4:c.673G>T MANE Select	NP_000334.1:p.Glu225Ter
ENST00000266088.9:c.673G>T MANE Select	ENSP00000266088.4:p.Glu225Ter
NM_000343.3:c.673G>T	NP_000334.1:p.Glu225Ter
NM_001256314.1:c.292G>T	NP_001243243.1:p.Glu98Ter
NM_001256314.2:c.292G>T	NP_001243243.1:p.Glu98Ter
ENST00000266088.8:c.673G>T	ENSP00000266088.4:p.Glu225Ter
ENST00000486394.1:n.113G>T
ENST00000543737.2:c.292G>T	ENSP00000444898.1:p.Glu98Ter
XM_011530331.1:c.673G>T	XP_011528633.1:p.Glu225Ter
XR_938173.1:n.592-15644C>A
XR_938174.1:n.487-15644C>A