Canonical Allele Identifier: CA211935

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 224104
• ClinVar RCV Id: RCV000209836
• dbSNP Id: rs794727870
• MyVariant Identifiers: chr1:g.43394915G>A (hg19) ; chr1:g.42929244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929244G>A , CM000663.2:g.42929244G>A	GRCh38
NC_000001.10:g.43394915G>A , CM000663.1:g.43394915G>A	GRCh37
NC_000001.9:g.43167502G>A	NCBI36
NG_008232.1:g.34933C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.938C>T MANE Select	ENSP00000416293.2:p.Ser313Phe
ENST00000674545.1:n.256C>T
ENST00000674765.1:c.938C>T	ENSP00000501811.1:p.Ser313Phe
ENST00000675112.1:n.1239C>T
ENST00000676254.1:n.1387C>T
ENST00000426263.7:c.938C>T	ENSP00000416293.2:p.Ser313Phe
ENST00000439722.2:c.817C>T	ENSP00000395521.2:n.817C>T
ENST00000475162.3:c.415+1382C>T
ENST00000630287.2:c.*253C>T	ENSP00000486694.1:n.*253C>T
NM_006516.2:c.938C>T	NP_006507.2:p.Ser313Phe
NM_006516.3:c.938C>T	NP_006507.2:p.Ser313Phe
NM_006516.4:c.938C>T MANE Select	NP_006507.2:p.Ser313Phe