Canonical Allele Identifier: CA10198257

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32102128C>T , CM000684.2:g.32102128C>T	GRCh38
NC_000022.10:g.32498115C>T , CM000684.1:g.32498115C>T	GRCh37
NC_000022.9:g.30828115C>T	NCBI36
NG_017045.1:g.64097C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000343.4:c.1556C>T MANE Select	NP_000334.1:p.Thr519Met
ENST00000266088.9:c.1556C>T MANE Select	ENSP00000266088.4:p.Thr519Met
NM_000343.3:c.1556C>T	NP_000334.1:p.Thr519Met
NM_001256314.1:c.1175C>T	NP_001243243.1:p.Thr392Met
NM_001256314.2:c.1175C>T	NP_001243243.1:p.Thr392Met
ENST00000266088.8:c.1556C>T	ENSP00000266088.4:p.Thr519Met
ENST00000477969.1:n.722C>T
ENST00000543737.2:c.1175C>T	ENSP00000444898.1:p.Thr392Met
XM_011530331.1:c.*88C>T	XP_011528633.1:n.*88C>T
XR_938173.1:n.591+4710G>A
XR_938174.1:n.486+17727G>A