Canonical Allele Identifier: CA411314502

Gene: SLC5A1

Linked Data

• MyVariant Identifiers: chr22:g.32500783T>G (hg19) ; chr22:g.32104796T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104796T>G , CM000684.2:g.32104796T>G	GRCh38
NC_000022.10:g.32500783T>G , CM000684.1:g.32500783T>G	GRCh37
NC_000022.9:g.30830783T>G	NCBI36
NG_017045.1:g.66765T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1676T>G MANE Select	ENSP00000266088.4:p.Leu559Arg
ENST00000266088.8:c.1676T>G	ENSP00000266088.4:p.Leu559Arg
ENST00000543737.2:c.1295T>G	ENSP00000444898.1:p.Leu432Arg
NM_000343.3:c.1676T>G	NP_000334.1:p.Leu559Arg
NM_001256314.1:c.1295T>G	NP_001243243.1:p.Leu432Arg
XR_938173.1:n.591+2042A>C
XR_938174.1:n.486+15059A>C
NM_000343.4:c.1676T>G MANE Select	NP_000334.1:p.Leu559Arg
NM_001256314.2:c.1295T>G	NP_001243243.1:p.Leu432Arg