Canonical Allele Identifier: CA2401804237

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104836C= , CM000684.2:g.32104836C=	GRCh38
NC_000022.10:g.32500823C= , CM000684.1:g.32500823C=	GRCh37
NC_000022.9:g.30830823C=	NCBI36
NG_017045.1:g.66805C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1716C= MANE Select	ENSP00000266088.4:p.Asp572=
ENST00000266088.8:c.1716C=	ENSP00000266088.4:p.Asp572=
ENST00000543737.2:c.1335C=	ENSP00000444898.1:p.Asp445=
NM_000343.3:c.1716C=	NP_000334.1:p.Asp572=
NM_001256314.1:c.1335C=	NP_001243243.1:p.Asp445=
XR_938173.1:n.591+2002G=
XR_938174.1:n.486+15019G=
NM_000343.4:c.1716C= MANE Select	NP_000334.1:p.Asp572=
NM_001256314.2:c.1335C=	NP_001243243.1:p.Asp445=