Canonical Allele Identifier: CA2401804219

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104810C= , CM000684.2:g.32104810C=	GRCh38
NC_000022.10:g.32500797C= , CM000684.1:g.32500797C=	GRCh37
NC_000022.9:g.30830797C=	NCBI36
NG_017045.1:g.66779C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1690C= MANE Select	ENSP00000266088.4:p.Arg564=
ENST00000266088.8:c.1690C=	ENSP00000266088.4:p.Arg564=
ENST00000543737.2:c.1309C=	ENSP00000444898.1:p.Arg437=
NM_000343.3:c.1690C=	NP_000334.1:p.Arg564=
NM_001256314.1:c.1309C=	NP_001243243.1:p.Arg437=
XR_938173.1:n.591+2028G=
XR_938174.1:n.486+15045G=
NM_000343.4:c.1690C= MANE Select	NP_000334.1:p.Arg564=
NM_001256314.2:c.1309C=	NP_001243243.1:p.Arg437=