Canonical Allele Identifier: CA411314772

Gene: SLC5A1

Linked Data

• MyVariant Identifiers: chr22:g.32500839G>T (hg19) ; chr22:g.32104852G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104852G>T , CM000684.2:g.32104852G>T	GRCh38
NC_000022.10:g.32500839G>T , CM000684.1:g.32500839G>T	GRCh37
NC_000022.9:g.30830839G>T	NCBI36
NG_017045.1:g.66821G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1732G>T MANE Select	ENSP00000266088.4:p.Glu578Ter
ENST00000266088.8:c.1732G>T	ENSP00000266088.4:p.Glu578Ter
ENST00000543737.2:c.1351G>T	ENSP00000444898.1:p.Glu451Ter
NM_000343.3:c.1732G>T	NP_000334.1:p.Glu578Ter
NM_001256314.1:c.1351G>T	NP_001243243.1:p.Glu451Ter
XR_938173.1:n.591+1986C>A
XR_938174.1:n.486+15003C>A
NM_000343.4:c.1732G>T MANE Select	NP_000334.1:p.Glu578Ter
NM_001256314.2:c.1351G>T	NP_001243243.1:p.Glu451Ter