Canonical Allele Identifier: CA411311761

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32099290T>A , CM000684.2:g.32099290T>A	GRCh38
NC_000022.10:g.32495277T>A , CM000684.1:g.32495277T>A	GRCh37
NC_000022.9:g.30825277T>A	NCBI36
NG_017045.1:g.61259T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000343.4:c.1388T>A MANE Select	NP_000334.1:p.Leu463Ter
ENST00000266088.9:c.1388T>A MANE Select	ENSP00000266088.4:p.Leu463Ter
NM_000343.3:c.1388T>A	NP_000334.1:p.Leu463Ter
NM_001256314.1:c.1007T>A	NP_001243243.1:p.Leu336Ter
NM_001256314.2:c.1007T>A	NP_001243243.1:p.Leu336Ter
ENST00000266088.8:c.1388T>A	ENSP00000266088.4:p.Leu463Ter
ENST00000477969.1:n.554T>A
ENST00000543737.2:c.1007T>A	ENSP00000444898.1:p.Leu336Ter
XM_011530331.1:c.1281-2732T>A	XP_011528633.1:n.1281-2732T>A
XR_938173.1:n.591+7548A>T
XR_938174.1:n.486+20565A>T