Canonical Allele Identifier: CA2401804206

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104787T= , CM000684.2:g.32104787T=	GRCh38
NC_000022.10:g.32500774T= , CM000684.1:g.32500774T=	GRCh37
NC_000022.9:g.30830774T=	NCBI36
NG_017045.1:g.66756T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1667T= MANE Select	ENSP00000266088.4:p.Leu556=
ENST00000266088.8:c.1667T=	ENSP00000266088.4:p.Leu556=
ENST00000543737.2:c.1286T=	ENSP00000444898.1:p.Leu429=
NM_000343.3:c.1667T=	NP_000334.1:p.Leu556=
NM_001256314.1:c.1286T=	NP_001243243.1:p.Leu429=
XR_938173.1:n.591+2051A=
XR_938174.1:n.486+15068A=
NM_000343.4:c.1667T= MANE Select	NP_000334.1:p.Leu556=
NM_001256314.2:c.1286T=	NP_001243243.1:p.Leu429=