Canonical Allele Identifier: CA514277454

Gene: SLC5A1

Linked Data

• MyVariant Identifiers: chr22:g.32500853A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104866A>G , CM000684.2:g.32104866A>G	GRCh38
NC_000022.10:g.32500853A>G , CM000684.1:g.32500853A>G	GRCh37
NC_000022.9:g.30830853A>G	NCBI36
NG_017045.1:g.66835A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1746A>G MANE Select	ENSP00000266088.4:p.Glu582=
ENST00000266088.8:c.1746A>G	ENSP00000266088.4:p.Glu582=
ENST00000543737.2:c.1365A>G	ENSP00000444898.1:p.Glu455=
NM_000343.3:c.1746A>G	NP_000334.1:p.Glu582=
NM_001256314.1:c.1365A>G	NP_001243243.1:p.Glu455=
XR_938173.1:n.591+1972T>C
XR_938174.1:n.486+14989T>C
NM_000343.4:c.1746A>G MANE Select	NP_000334.1:p.Glu582=
NM_001256314.2:c.1365A>G	NP_001243243.1:p.Glu455=