Canonical Allele Identifier: CA2401804218

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104809G= , CM000684.2:g.32104809G=	GRCh38
NC_000022.10:g.32500796G= , CM000684.1:g.32500796G=	GRCh37
NC_000022.9:g.30830796G=	NCBI36
NG_017045.1:g.66778G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1689G= MANE Select	ENSP00000266088.4:p.Leu563=
ENST00000266088.8:c.1689G=	ENSP00000266088.4:p.Leu563=
ENST00000543737.2:c.1308G=	ENSP00000444898.1:p.Leu436=
NM_000343.3:c.1689G=	NP_000334.1:p.Leu563=
NM_001256314.1:c.1308G=	NP_001243243.1:p.Leu436=
XR_938173.1:n.591+2029C=
XR_938174.1:n.486+15046C=
NM_000343.4:c.1689G= MANE Select	NP_000334.1:p.Leu563=
NM_001256314.2:c.1308G=	NP_001243243.1:p.Leu436=