Canonical Allele Identifier: CA2401804227

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104820A= , CM000684.2:g.32104820A=	GRCh38
NC_000022.10:g.32500807A= , CM000684.1:g.32500807A=	GRCh37
NC_000022.9:g.30830807A=	NCBI36
NG_017045.1:g.66789A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1700A= MANE Select	ENSP00000266088.4:p.Lys567=
ENST00000266088.8:c.1700A=	ENSP00000266088.4:p.Lys567=
ENST00000543737.2:c.1319A=	ENSP00000444898.1:p.Lys440=
NM_000343.3:c.1700A=	NP_000334.1:p.Lys567=
NM_001256314.1:c.1319A=	NP_001243243.1:p.Lys440=
XR_938173.1:n.591+2018T=
XR_938174.1:n.486+15035T=
NM_000343.4:c.1700A= MANE Select	NP_000334.1:p.Lys567=
NM_001256314.2:c.1319A=	NP_001243243.1:p.Lys440=