Canonical Allele Identifier: CA10198231

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32099333G>T , CM000684.2:g.32099333G>T	GRCh38
NC_000022.10:g.32495320G>T , CM000684.1:g.32495320G>T	GRCh37
NC_000022.9:g.30825320G>T	NCBI36
NG_017045.1:g.61302G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000343.4:c.1431G>T MANE Select	NP_000334.1:p.Trp477Cys
ENST00000266088.9:c.1431G>T MANE Select	ENSP00000266088.4:p.Trp477Cys
NM_000343.3:c.1431G>T	NP_000334.1:p.Trp477Cys
NM_001256314.1:c.1050G>T	NP_001243243.1:p.Trp350Cys
NM_001256314.2:c.1050G>T	NP_001243243.1:p.Trp350Cys
ENST00000266088.8:c.1431G>T	ENSP00000266088.4:p.Trp477Cys
ENST00000477969.1:n.597G>T
ENST00000543737.2:c.1050G>T	ENSP00000444898.1:p.Trp350Cys
XM_011530331.1:c.1281-2689G>T	XP_011528633.1:n.1281-2689G>T
XR_938173.1:n.591+7505C>A
XR_938174.1:n.486+20522C>A