Canonical Allele Identifier: CA2401804240

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104842T= , CM000684.2:g.32104842T=	GRCh38
NC_000022.10:g.32500829T= , CM000684.1:g.32500829T=	GRCh37
NC_000022.9:g.30830829T=	NCBI36
NG_017045.1:g.66811T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1722T= MANE Select	ENSP00000266088.4:p.Asp574=
ENST00000266088.8:c.1722T=	ENSP00000266088.4:p.Asp574=
ENST00000543737.2:c.1341T=	ENSP00000444898.1:p.Asp447=
NM_000343.3:c.1722T=	NP_000334.1:p.Asp574=
NM_001256314.1:c.1341T=	NP_001243243.1:p.Asp447=
XR_938173.1:n.591+1996A=
XR_938174.1:n.486+15013A=
NM_000343.4:c.1722T= MANE Select	NP_000334.1:p.Asp574=
NM_001256314.2:c.1341T=	NP_001243243.1:p.Asp447=