Canonical Allele Identifier: CA10198114

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32085020C>T , CM000684.2:g.32085020C>T	GRCh38
NC_000022.10:g.32481007C>T , CM000684.1:g.32481007C>T	GRCh37
NC_000022.9:g.30811007C>T	NCBI36
NG_017045.1:g.46989C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000343.4:c.1006C>T MANE Select	NP_000334.1:p.Arg336Cys
ENST00000266088.9:c.1006C>T MANE Select	ENSP00000266088.4:p.Arg336Cys
NM_000343.3:c.1006C>T	NP_000334.1:p.Arg336Cys
NM_001256314.1:c.625C>T	NP_001243243.1:p.Arg209Cys
NM_001256314.2:c.625C>T	NP_001243243.1:p.Arg209Cys
ENST00000266088.8:c.1006C>T	ENSP00000266088.4:p.Arg336Cys
ENST00000477969.1:n.172C>T
ENST00000486394.1:n.446C>T
ENST00000543737.2:c.625C>T	ENSP00000444898.1:p.Arg209Cys
XM_011530331.1:c.1006C>T	XP_011528633.1:p.Arg336Cys
XR_938173.1:n.592-16217G>A
XR_938174.1:n.487-16217G>A